研究成果


第 1 到 304 筆結果，共 304 筆。

公開日期標題作者來源出版物scopusWOS全文
12024Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insightsHUI-AN CHEN ; Hsu, Rai Hseng; Chen, Li Chu; NI-CHUNG LEE ; Chiu, Pao Chin; WUH-LIANG ​​HWU ; YIN-HSIU CHIEN Molecular Genetics and Metabolism Reports
22024Gene therapy corrects the neurological deficits of mice with sialidosisWUH-LIANG ​​HWU ; Chang, Karine; Liu, Yu-Han; Wang, Hao-Chun; NI-CHUNG LEE ; YIN-HSIU CHIEN Gene therapy
32024Ethnically unique disease burden and limitations of current expanded carrier screening panelsCHIH-LING CHEN ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG ​​HWU ; Hung, Miao-Zi; Lin, Yi-Lin; SHIN-YU LIN ; CHIEN-NAN LEE International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics00
42023Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5Chen, Pin-Shiuan; NI-CHUNG LEE ; Sung, Chieh-Ju; YA-WEN LIU ; WEN-CHIN WENG ; PI-CHUAN FAN ; WANG-TSO LEE ; YIN-HSIU CHIEN ; Wu, Chao-Szu; Sung, Yueh-Feng; Tsai, Ming-Chen; Lee, Yi-Chung; HSUEH-WEN HSUEH ; Fan, Sabrina Mai-Yi; MENG-CHEN WU ; Li, Hsun; Chen, Huan-Yun; Lin, Han-I; Ou-Yang, Chih-Hsin; Hwuh, Wuh-Liang; CHIN-HSIEN LIN Movement disorders : official journal of the Movement Disorder Society20
52023Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiencyHsu, Rai-Hseng; NI-CHUNG LEE ; HUI-AN CHEN ; WUH-LIANG ​​HWU ; Chang, Tung-Ming; YIN-HSIU CHIEN Orphanet journal of rare diseases
62023Curated incidence of lysosomal storage diseases from the Taiwan BiobankTsai, Meng-Ju Melody; Hung, Miao-Zi; Lin, Yi-Lin; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG ​​HWU NPJ genomic medicine00
72023Changing clinical manifestations of Gaucher disease in TaiwanLu, Wen-Li; YIN-HSIU CHIEN ; Tsai, Fuu-Jen; WUH-LIANG ​​HWU ; Chou, Yen-Yin; Chu, Shao-Yin; MENG-JU LI ; Lee, An-Ju; Liao, Chao-Chuan; Wang, Chung-Hsing; NI-CHUNG LEE Orphanet journal of rare diseases00
82023Streamlined determination of 3-O-methyldopa in dried blood spots: Prospective screening for aromatic l-amino-acid decarboxylase deficiencyChen, Pin-Wen; WUH-LIANG ​​HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN Molecular genetics and metabolism10
92023Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changesHimmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A; Zeev, Bruria Ben; Bisello, Giovanni; Ceylan, Ahmet Cevdet; YIN-HSIU CHIEN ; Choy, Yew Sing; Elsea, Sarah H; Flint, Lisa; García-Cazorla, Àngels; Gijavanekar, Charul; Gümüş, Emel Yılmaz; Hamad, Muddathir H; Hişmi, Burcu; Honzik, Tomas; Kuseyri Hübschmann, Oya; Hwu, Wuh-Liang; Ibáñez-Micó, Salvador; Jeltsch, Kathrin; Juliá-Palacios, Natalia; Kasapkara, Çiğdem Seher; Kurian, Manju A; Kusmierska, Katarzyna; Liu, Ning; Ngu, Lock Hock; Odom, John D; Ong, Winnie Peitee; Opladen, Thomas; Oppeboen, Mari; Pearl, Phillip L; Pérez, Belén; Pons, Roser; Rygiel, Agnieszka Magdalena; Shien, Tan Ee; Spaull, Robert; Sykut-Cegielska, Jolanta; Tabarki, Brahim; Tangeraas, Trine; Thöny, Beat; Wassenberg, Tessa; Wen, Yongxin; Yakob, Yusnita; Yin, Jasmine Goh Chew; Zeman, Jiri; Blau, NenadMolecular genetics and metabolism31
102023Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver DiseasesChen, Chi-Bo; Jacob Shujui Hsu ; PEI-LUNG CHEN ; JIA-FENG WU ; Li, Huei-Ying; Liou, Bang-Yu; MEI-HWEI CHANG ; YEN-HSUAN NI ; WUH-LIANG ​​HWU ; YIN-HSIU CHIEN ; Chou, Yen-Yin; Yang, Yao-Jong; NI-CHUNG LEE ; HUEY-LING CHEN The Journal of Pediatrics10
112023Loss of Flot2 expression in deep cerebellar nuclei neurons of mice with Niemann-Pick disease type CChen, Tsu-I; Hsu, Pei-Chun; NI-CHUNG LEE ; Liu, Yu-Han; Wang, Hao-Chun; Lu, Yen-Hsu; YIN-HSIU CHIEN ; WUH-LIANG ​​HWU Heliyon00
122023Bedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage disease type IaHsu, Rai-Hseng; HUI-AN CHEN ; YIN-HSIU CHIEN ; WUH-LIANG ​​HWU ; Lin, Ju-Li; Weng, Hui-Ling; Lin, Yi-Ting; Lin, Yu-Ching; NI-CHUNG LEE Molecular genetics & genomic medicine00
132023Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical TrialKishnani, Priya S; Diaz-Manera, Jordi; Toscano, Antonio; Clemens, Paula R; Ladha, Shafeeq; Berger, Kenneth I; Kushlaf, Hani; Straub, Volker; Carvalho, Gerson; Mozaffar, Tahseen; Roberts, Mark; Attarian, Shahram; YIN-HSIU CHIEN ; Choi, Young-Chul; Day, John W; Erdem-Ozdamar, Sevim; Illarioshkin, Sergey; Goker-Alpan, Ozlem; Kostera-Pruszczyk, Anna; van der Ploeg, Ans T; An Haack, Kristina; Huynh-Ba, Olivier; Tammireddy, Swathi; Thibault, Nathan; Zhou, Tianyue; Dimachkie, Mazen M; Schoser, BenediktJAMA neurology67
142023Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia populationHsu, Rai-Hseng; Lee, Chen-Hao; YIN-HSIU CHIEN ; Lin, Shuan-Pei; Hung, Miao-Zi; Chen, Nai-Chi; Lin, Yi-Lin; WUH-LIANG ​​HWU ; NI-CHUNG LEE Molecular genetics & genomic medicine00
152023Clinical Characteristics, Genetic Features, and Long-Term Outcome of Wilson's Disease in a Taiwanese Population: An 11-Year Follow-Up StudyFan, Sung-Pin; Kuo, Yih-Chih; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG ​​HWU ; Huang, Yu-Hsuan; Lin, Han-I; TAI-CHUNG TSENG ; TUNG-HUNG SU ; SHIOU-RU TZENG ; Hsu, Chien-Ting; HUEY-LING CHEN ; CHIN-HSIEN LIN ; YEN-HSUAN NI Journal of Movement Disorders2
162023The prognosis of citrin deficiency differs between early-identified newborn and later-onset symptomatic infantsChen, Cheng-Yu; MEI-HWEI CHANG ; HUEY-LING CHEN ; YIN-HSIU CHIEN ; JIA-FENG WU Pediatric research20
172023A Pilot Study of Biliary Atresia Newborn Screening Using Dried Blood Spot Matrix Metalloproteinase-7Lee, Chee-Seng; YEN-HSUAN NI ; HUEY-LING CHEN ; JIA-FENG WU ; HONG-YUAN HSU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; WUH-LIANG ​​HWU ; TING-AN YEN ; Chua, Huey-Huey; Chen, Yu-Ju; Wang, Yu-Lin; MEI-HWEI CHANG Journal of pediatric gastroenterology and nutrition53
182023An automated workflow on data processing (AutoDP) for semiquantitative analysis of urine organic acids with GC-MS to facilitate diagnosis of inborn errors of metabolismWang, San-Yuan; TE-I WENG ; Chen, Ju-Yu; NI-CHUNG LEE ; Lee, Kun-Chen; Lai, Mei-Ling; YIN-HSIU CHIEN ; WUH-LIANG ​​HWU ; GUAN-YUAN CHEN Clinica chimica acta; international journal of clinical chemistry00
192023Corneal Biomechanical Characteristics in Osteogenesis Imperfecta With Collagen DefectChou, Chien-Chih; PO-JEN SHIH ; TZUU-SHUH JOU ; Hsu, Min-Yen; Chen, Jun-Peng; Hsu, Rai-Hseng; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG ​​HWU ; I-JONG WANG Translational vision science & technology31
202023Sonographic evaluations of the skeletal muscles in patients with Pompe diseaseYI-HSIANG CHIU ; Liao, Chun-Li; YIN-HSIU CHIEN ; CHUEH-HUNG WU ; Özçakar, LeventEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society22
212023Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe diseaseHsu, Yu-Kang; YIN-HSIU CHIEN ; STEVEN SHINN-FORNG PENG ; WUH-LIANG ​​HWU ; WANG-TSO LEE ; NI-CHUNG LEE ; Po-Yu Huang, Eric; WEN-CHIN WENG Genetics in medicine : official journal of the American College of Medical Genetics64
222023Precocious puberty in patients with Pompe diseaseTsai, Meng-Ju Melody; Chen, Mei-Huei; YIN-HSIU CHIEN ; YI-CHING TUNG Frontiers in endocrinology00
232023Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi studyBichet, Daniel G; Hopkin, Robert J; Aguiar, Patrício; Allam, Sridhar R; YIN-HSIU CHIEN ; Giugliani, Roberto; Kallish, Staci; Kineen, Sabina; Lidove, Olivier; Niu, Dau-Ming; Olivotto, Iacopo; Politei, Juan; Rakoski, Paul; Torra, Roser; Tøndel, Camilla; Hughes, Derralynn AFrontiers in medicine21
242023Diagnostic Challenges of Neuromuscular Disorders after Whole Exome SequencingChen, Pin-Shiuan; CHI-CHAO CHAO ; LI-KAI TSAI ; Huang, Hsin-Yi; YIN-HSIU CHIEN ; PEI-HSIN HUANG ; WUH-LIANG ​​HWU ; SUNG-TSANG HSIEH ; NI-CHUNG LEE ; HSUEH-WEN HSUEH ; Chih-Chao Yang Journal of neuromuscular diseases11
252022Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis reportKishnani, Priya S; Kronn, David; Brassier, Anaïs; Broomfield, Alexander; Davison, James; Hahn, Si Houn; Kumada, Satoko; Labarthe, François; Ohki, Hirotaka; Pichard, Samia; Prakalapakorn, S Grace; Haack, Kristina An; Kittner, Barbara; Meng, Xianzhang; Sparks, Susan; Wilson, Catherine; Zaher, Atef; YIN-HSIU CHIEN Genetics in medicine : official journal of the American College of Medical Genetics117
262022Harnessing polyhydroxylated pyrrolidines as a stabilizer of acid alpha-glucosidase (GAA) to enhance the efficacy of enzyme replacement therapy in Pompe diseaseLi, Huang-Yi; NI-CHUNG LEE ; Chiu, Yu-Ting; Chang, Yu-Wen; Lin, Chu-Chung; Chou, Cheng-Li; YIN-HSIU CHIEN ; WUH-LIANG ​​HWU ; Cheng, Wei-ChiehBioorganic & medicinal chemistry20
272022The diversity of hereditary neuromuscular diseases: Experiences from molecular diagnosisHSUEH-WEN HSUEH ; WEN-CHIN WENG ; PI-CHUAN FAN ; YIN-HSIU CHIEN ; FENG-JUNG YANG ; WANG-TSO LEE ; Lin, Ru-Jen; WUH-LIANG ​​HWU ; Chih-Chao Yang ; NI-CHUNG LEE Journal of the Formosan Medical Association = Taiwan yi zhi11
282022Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening LaboratoriesGelb, Michael H; Basheeruddin, Khaja; Burlina, Alberto; Chen, Hsiao-Jan; YIN-HSIU CHIEN ; Dizikes, George; Dorley, Christine; Giugliani, Roberto; Hietala, Amy; Hong, Xinying; Kao, Shu-Min; Khaledi, Hamid; Klug, Tracy; Kubaski, Francyne; Liao, Hsuan-Chieh; Martin, Monica; Manning, Adrienne; Orsini, Joseph; Peng, Yin; Ranieri, Enzo; Rohrwasser, Andreas; Szabo-Fresnais, Nicolas; Turgeon, Coleman T; Vaz, Frédérick M; Wang, Li-Yun; Matern, DietrichInternational journal of neonatal screening118
292022The modern face of newborn screeningYIN-HSIU CHIEN ; WUH-LIANG ​​HWU Pediatrics and neonatology32
302022Predicting the disease severity in male individuals with ornithine transcarbamylase deficiencyScharre, Svenja; Posset, Roland; Garbade, Sven F; Gleich, Florian; Seidl, Marie J; Druck, Ann-Catrin; Okun, Jürgen G; Gropman, Andrea L; Nagamani, Sandesh C S; Hoffmann, Georg F; Kölker, Stefan; Zielonka, Matthias; YIN-HSIU CHIEN Annals of clinical and translational neurology52
312022Clinical and Immunological Defects and Outcomes in Patients with Chromosome 22q11.2 Deletion SyndromeHSIN-HUI YU ; YIN-HSIU CHIEN ; MENG-YAO LU ; YA-CHIAO HU ; JYH-HONG LEE ; LI-CHIEH WANG ; YU-TSAN LIN ; YAO-HSU YANG ; BOR-LUEN CHIANG Journal of clinical immunology52
322022A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndromeChu, Chia-Mei; HSIN-HUI YU ; Kao, Tsai-Ling; Chen, Yi-Hsuan; Lu, Hsuan-Hsuan; EN-TING WU ; Yang, Yun-Li; CHIN-HSIEN LIN ; SHIN-YU LIN ; Tsai, Meng-Ju Melody; YIN-HSIU CHIEN ; WUH-LIANG ​​HWU ; WEN-PIN CHEN ; NI-CHUNG LEE ; CHI-KANG TSENG NPJ genomic medicine22
332022Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortiumMütze, Ulrike; Gleich, Florian; Barić, Ivo; Baumgartner, Mathias; Burlina, Alberto; Chapman, Kimberly A; YIN-HSIU CHIEN ; Cortès-Saladelafont, Elisenda; De Laet, Corinne; Dobbelaere, Dries; Eysken, Francois; Gautschi, Matthias; Santer, Rene; Häberle, Johannes; Joaquín, Clara; Karall, Daniela; Lindner, Martin; Lund, Allan M; Mühlhausen, Chris; Murphy, Elaine; Roland, Dominique; Ruiz Gomez, Angeles; Skouma, Anastasia; Grünert, Sarah C; Wagenmakers, Margreet; Garbade, Sven F; Kölker, Stefan; Boy, NikolasJournal of inherited metabolic disease66
342022Adult height of children with congenital adrenal hyperplasia due to 21-hydroxylase deficiencyTsai, Meng-Ju Melody; Tsai, Wei-Yu; CHENG-TING LEE ; SHIH-YAO LIU ; YIN-HSIU CHIEN ; YI-CHING TUNG Journal of the Formosan Medical Association = Taiwan yi zhi21
352022Next-generation sequencing reanalysis identifies Coffin-Siris syndrome with an initial diagnosis of hypertrophic cardiomyopathyHsu, Rai-Hseng; NI-CHUNG LEE ; MING-TAI LIN ; TING-AN YEN ; YIN-HSIU CHIEN ; WUH-LIANG ​​HWU Pediatrics and neonatology00
362022Asymptomatic ASS1 carriers with high blood citrulline levelsHUI-AN CHEN ; Hsu, Rai-Hseng; Chang, Kai-Ling; Huang, Yi-Chen; Chiang, Yun-Chen; NI-CHUNG LEE ; WUH-LIANG ​​HWU ; Chiu, Pao-Chin; YIN-HSIU CHIEN Molecular genetics & genomic medicine21
372022Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3NI-CHUNG LEE ; YIN-HSIU CHIEN ; Wang, Chung Hsing; Wong, Siew Lee; STEVEN SHINN-FORNG PENG ; Tsai, Fuu Jen; WUH-LIANG ​​HWU Molecular Genetics and Metabolism Reports55
382022Short stature leads to a diagnosis of Jansen-de Vries syndrome in two unrelated Taiwanese girls: A case report and literature reviewTsai, Meng-Ju Melody; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG ​​HWU ; YI-CHING TUNG Journal of the Formosan Medical Association = Taiwan yi zhi22
392022Hepatic Steatosis Assessment as a New Strategy for the Metabolic and Nutritional Management of Duchenne Muscular DystrophyTang, Ya-Chun; Tsui, Po-Hsiang; Wang, Chiao-Yin; Chien, Yin-Hsiu; YIN-HSIU CHIEN ; Yang, Chung-Yi; WEN-CHIN WENG Nutrients34
402022Outcome of Later-Onset Pompe Disease Identified Through Newborn ScreeningNI-CHUNG LEE ; Chang, Kai-Ling; In 't Groen, Stijn L M; de Faria, Douglas O S; Huang, Hsiang-Ju; Pijnappel, W W M Pim; WUH-LIANG ​​HWU ; YIN-HSIU CHIEN The Journal of pediatrics73
412022Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experienceCho, Chih-Yi; Tsai, Wen-Yu; CHENG-TING LEE ; SHIH-YAO LIU ; Huang, Shu-Yuan; YIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE ; YI-CHING TUNG Journal of the Formosan Medical Association97
422022Endocrine and Growth Disorders in Taiwanese Children With 22q11.2 Deletion SyndromeLin, Han-Yi; Tsai, Wen-Yu; YI-CHING TUNG ; SHIH-YAO LIU ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG ​​HWU ; CHENG-TING LEE Frontiers in endocrinology32
432022Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of ImmunityChan K.-W.; Wong C.-Y.; Leung D.; Yang X.; Fok S.F.S.; Mak P.H.S.; Yao L.; Ma W.; Mao H.; Zhao X.; Liang W.; Singh S.; Barbouche M.-R.; He J.-X.; Jiang L.-P.; Liew W.-K.; Le M.H.T.; Muktiarti D.; Santos-Ocampo F.J.; Djidjik R.; Belaid B.; Ismail I.H.; Abdul Latiff A.H.; Lee W.S.; Chen T.-X.; Liu J.; Jin R.; Wang X.; YIN-HSIU CHIEN ; HSIN-HUI YU ; Raj D.; Raj R.; Vaughan J.; Urban M.; Berg S.V.D.; Eley B.; Lee A.C.-W.; Isa M.S.; Ang E.Y.; Lee B.W.; Yeoh A.E.J.; Shek L.P.; Quynh Le N.N.; Nguyen V.A.T.; Phan Nguyen Lien A.; Capulong R.D.; Mallillin J.M.; Villanueva J.C.M.M.; Camonayan K.A.B.; Vera M.D.; Casis-Hao R.J.; Lobo R.C.M.; Foronda R.; Binas V.W.E.; Boushaki S.; Kechout N.; Phongsamart G.; Wongwaree S.; Jiratchaya C.; Lao-Araya M.; Trakultivakorn M.; Suratannon N.; Jirapongsananuruk O.; Chantveerawong T.; Kamchaisatian W.; Chan L.L.; Koh M.T.; Wong K.J.; Fong S.M.; Thong M.-K.; Latiff Z.A.; Noh L.M.; Silva R.D.; Jouhadi Z.; Al-Saad K.; Vignesh P.; Jindal A.K.; Rawat A.; Gupta A.; Suri D.; Yang J.; Au E.Y.-L.; Kwok J.S.-Y.; Chan S.-Y.; Hui W.Y.-F.; Chua G.T.; Duque J.R.; Cheong K.-N.; Chong P.C.Y.; Ho M.H.K.; Lee T.-L.; Wong W.H.-S.; Yang W.; Lee P.P.; Tu W.; Yang X.-Q.; Lau Y.L.Frontiers in Immunology22
442022Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier testHUI-AN CHEN ; Hsu R.-H.; Chen Y.-H.; Hsu L.-W.; Chiang S.-C.; NI-CHUNG LEE ; WUH-LIANG ​​HWU ; Chiu P.-C.; YIN-HSIU CHIEN Molecular Genetics and Metabolism85
452022Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiencyYverneau M.; Leroux S.; Imbard A.; Gleich F.; Arion A.; Moreau C.; Nassogne M.-C.; Szymanowski M.; Tardieu M.; Touati G.; Bueno M.; Chapman K.A.; YIN-HSIU CHIEN ; Huemer M.; Ješina P.; Janssen M.C.H.; Kölker S.; Kožich V.; Lavigne C.; Lund A.M.; Mochel F.; Morris A.; Pons M.R.; Porras-Hurtado G.L.; Benoist J.-F.; Damaj L.; Schiff M.; E-HOD ConsortiumJournal of Inherited Metabolic Disease75
462022Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiencyTai, Chun-Hwei; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Byrne, Barry J; Muramatsu, Shin-Ichi; SHENG-HONG TSENG ; WUH-LIANG HWU Molecular therapy : the journal of the American Society of Gene Therapy4844
472022Advanced therapeutic strategy for hereditary neuromuscular diseasesWUH-LIANG HWU ; Muramatsu S.-I.; YIN-HSIU CHIEN ; Byrne B.J.Molecular therapy : the journal of the American Society of Gene Therapy11
482022High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in TaiwanHUI-AN CHEN ; Hsu, Rai-Hseng; Chen, Pin-Wen; NI-CHUNG LEE ; Chiu P.-C.; WUH-LIANG ​​HWU ; YIN-HSIU CHIEN Molecular Genetics and Metabolism Reports74
492022Comparison of GATK and DeepVariant by trio sequencingLin, Yi-Lin; Chang, Pi-Chuan; Hsu, Ching; Hung, Miao-Zi; YIN-HSIU CHIEN ; WUH-LIANG ​​HWU ; FEI-PEI LAI ; NI-CHUNG LEE Scientific reports1813
502022Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in TaiwanYIN-HSIU CHIEN ; NI-CHUNG LEE ; WEN-CHIN WENG ; Chen L.-C.; Huang Y.-H.; Wu C.-S.; WUH-LIANG ​​HWU Neurological Sciences1410
512021CTLA-4 gene mutation and multiple sclerosis: A case report and literature reviewLin, Ting-Wei; YA-CHIAO HU ; YAO-HSU YANG ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; HSIN-HUI YU ; BOR-LUEN CHIANG ; LI-CHIEH WANG Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi33
522021Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to goDangouloff, Tamara; Vrščaj, Eva; Servais, Laurent; Osredkar, Damjan; YIN-HSIU CHIEN Neuromuscular disorders : NMD9572
532021A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from TaiwanKuo, Yih-Chih; HSUEH-WEN HSUEH ; Hsueh, Sung-Ju; NI-CHUNG LEE ; MING-JU HSIEH ; CHI-CHAO CHAO ; YIN-HSIU CHIEN ; PEI-HSIN HUANG ; Yang, Chih-ChaoNeuromuscular disorders : NMD33
542021DNA mixture interpretation using linear regression and neural networks on massively parallel sequencing data of single nucleotide polymorphismsYang, Ta Wei; Li, Yi Hao; CHENG-FU CHOU ; FEI-PEI LAI ; YIN-HSIU CHIEN ; Yin, Hsiang I.; Lee, Tsui Ting; HSIAO-LIN HWA Australian Journal of Forensic Sciences44
552021A novel deep intronic variant strongly associates with AlkaptonuriaLai C.-Y.; I-JUNG TSAI ; Chiu P.-C.; Ascher D.B.; YIN-HSIU CHIEN ; Huang Y.-H.; Lin Y.-L.; WUH-LIANG HWU ; NI-CHUNG LEE npj Genomic Medicine55
562021STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfaGutschmidt K.; Musumeci O.; D?az-Manera J.; YIN-HSIU CHIEN ; Knop K.C.; Wenninger S.; Montagnese F.; Pugliese A.; Tavilla G.; Alonso-P?rez J.; WUH-LIANG HWU ; Toscano A.; Schoser B.Journal of Neurology1513
572021A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe diseaseZeng Y.-T.; Liu W.-Y.; Torng P.-C.; WUH-LIANG HWU ; NI-CHUNG LEE ; Lin C.-Y.; YIN-HSIU CHIEN Scientific Reports11
582021Novel compound heterozygous variants in tbcd gene associated with infantile neurodegenerative encephalopathyCHIH-LING CHEN ; CHIEN-NAN LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Chang T.-M.; NI-CHUNG LEE Children33
592021Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosisKo?ich V.; Sokolov? J.; Morris A.A.M.; Pavl?kov? M.; Gleich F.; K?lker S.; Krijt J.; Dionisi-Vici C.; Baumgartner M.R.; Blom H.J.; Huemer M.; Ald?miz-Echevarr?a L.; Arantes R.R.; Arrieta F.; Blasco-Alonso J.; Brouwers M.; Brunner-Krainz M.; Bueno M.; Pel?ez R.B.; Cano A.; Couce M.-L.; Crushell E.; Ficicioglu C.; Forny P.; Garc?a Jim?nez M.C.; Gaspar A.; Gonz?lez-Lamu?o Leguina D.; Chapman K.A.; YIN-HSIU CHIEN ; Janssen M.C.H.; Je?ina P.; Lachmann R.; Lavigne C.; Lund A.M.; L?sebrink N.; Maillot F.; Martins A.M.; Olivas S.M.; Mention K.; Mochel F.; Monavari A.; Moreira S.; Moreno C.A.; Muacevic-Katanec D.; Mundy H.; Murphy E.; Olivieri G.; Paquay S.; Pedr?n-Giner C.; Quintana L.P.; Porras-Hurtado G.L.; Fraile P.Q.; Redonnet-Vernhet I.; Rennings A.J.M.; Pons M.R.; Santra S.; Servais A.; Schiaffino M.C.; Schiff M.; Schwahn B.C.; Schwartz I.V.D.; Sremba L.J.; Stainforth C.; Stepien K.M.; Sykut-Cegielska J.; Terry A.; Tran C.; Mi?ana I.V.; Vives-Pi?era I.; Williams M.; Zeman J.; Zielonka M.; E-HOD consortiumJournal of Inherited Metabolic Disease1812
602021Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trialDiaz-Manera J.; Kishnani P.S.; Kushlaf H.; Ladha S.; Mozaffar T.; Straub V.; Toscano A.; van der Ploeg A.T.; Berger K.I.; Clemens P.R.; YIN-HSIU CHIEN ; Day J.W.; Illarioshkin S.; Roberts M.; Attarian S.; Borges J.L.; Bouhour F.; Choi Y.C.; Erdem-Ozdamar S.; Goker-Alpan O.; Kostera-Pruszczyk A.; Haack K.A.; Hug C.; Huynh-Ba O.; Johnson J.; Thibault N.; Zhou T.; Dimachkie M.M.; Schoser B.; Behin A.; Boentert M.; Carvalho G.; Chahin N.; Charrow J.; Deegan P.; Durmus Tekce H.; Duval F.; Genge A.; Gutmann L.; Henderson R.D.; Hennermann J.B.; Hiwot T.; Hughes D.; Karaa A.; Karam C.; Kautzky-Willer A.; Komaki H.; Laforet P.; Longo N.; Malinova V.; Mar? R.; Maxit C.; Mengel E.; Moggio M.G.; Moln?r M.J.; Mongini T.E.; Nadaj-Pakleza A.; Nascimento Osorio A.; Noury J.-B.; Oliveira A.S.B.; Parman Y.; Pena L.; Remiche G.; Sciacco M.; Shieh P.B.; Smith C.; Stulnig T.; Taithe F.; Tard C.; Tarnopolsky M.; Vorgerd M.; Whitley C.; Young P.; Alonso-P?rez J.; Altemus P.; Aub?-Nathier A.-C.; Avelar J.B.; Bailey C.; Bekircan-Kurt C.E.; Billy J.; Boschi S.; Brown K.E.; Carrera Garcia L.; Chase L.; Cirne H.; Danjoux L.; Davion J.-B.; DeArmey S.; Fedotova E.; Gandolfo E.; Grosz Z.; Guellec D.; Guettsches A.-K.; Guglieri M.; Hatcher E.; Helms S.; Hufgard-Leitner M.; Klyushnikov S.A.; Langton J.; Linkov? L.; Mavroudakis N.; Mazurov? S.; Mori M.; M?ller-Miny L.; Musumeci O.; Nance C.S.; Natera-de Benito D.; Neel R.; Niizawa G.A.; Noll L.; Ortega E.; Pasnoor M.; Pautot V.; Potulska-Chromik A.; Pugliese A.; Questienne C.; Ramos Lopes M.; Reyes-Leiva D.; Riedl M.; Rugiero M.F.; Salort-Campana E.; Sgobbi Souza P.V.; Sole G.; Solera L.; Souto Lopes S.; Specht S.; Statland J.; Swenson A.; Tan C.Y.; Tizon S.; van der Beek N.A.M.E.; van Kooten H.A.; Wencel M.; Wenninger S.; Zagnoli F.; COMET Investigator GroupThe Lancet Neurology5739
612021CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screeningWEN-CHIN WENG ; Hsu, Yu-Kan; Chang, Fu-Man; Lin, Chun-Yen; WUH-LIANG HWU ; WANG-TSO LEE ; NI-CHUNG LEE ; YIN-HSIU CHIEN Genetics in medicine : official journal of the American College of Medical Genetics138
622021Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variantsZanetti A.; D'Avanzo F.; AlSayed M.; Brusius-Facchin A.C.; YIN-HSIU CHIEN ; Giugliani R.; Izzo E.; Kasper D.C.; Lin H.-Y.; Lin S.-P.; Pollard L.; Singh A.; Tonin R.; Wood T.; Morrone A.; Tomanin R.Human Mutation1312
632021Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent OligohydramniosSHIN-YU LIN ; GWO-TSANN CHUANG ; Hung C.-H.; WEI-CHOU LIN ; YUNG-MING JENG ; TING-AN YEN ; Chang K.; YIN-HSIU CHIEN ; WUH-LIANG ​​HWU ; CHIEN-NAN LEE ; I-JUNG TSAI ; NI-CHUNG LEE Frontiers in Genetics11
642021Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trialSchoser B.; Roberts M.; Byrne B.J.; Sitaraman S.; Jiang H.; Lafor?t P.; Toscano A.; Castelli J.; D?az-Manera J.; Goldman M.; van der Ploeg A.T.; Bratkovic D.; Kuchipudi S.; Mozaffar T.; Kishnani P.S.; Sebok A.; Pestronk A.; Dominovic-Kovacevic A.; Khan A.; Koritnik B.; Tard C.; Lindberg C.; Quinn C.; Eldridge C.; Bodkin C.; Reyes-Leiva D.; Hughes D.; Stefanescu E.; SALORT-CAMPANA E.; Butler E.; Bouhour F.; Kim G.; Konstantinos Papadimas G.; Parenti G.; Bartosik-Psujek H.; Kushlaf H.; Akihiro H.; Lau H.; Pedro H.; Andersen H.; Amartino H.; Shiraishi H.; Kobayashi H.; Tarnev I.; Vengoechea J.; Avelar J.; Shin J.-H.; Cauci J.; Alonso-P?rez J.; Janszky J.; Berthy J.; Cornelia K.; Gutschmidt K.; Claeys K.; Judit Molnar M.; Wencel M.; Tarnopolsky M.; Dimachkie M.; Tchan M.; Freimer M.; Longo N.; Vidal-Fernandez N.; Musumeci O.; Goker-Alpan O.; Deegan P.; Clemens P.R.; Roxburgh R.; Henderson R.; Hopkin R.; Sacconi S.; Fecarotta S.; Attarian S.; Wenninger S.; Dearmey S.; Hiwot T.; Burrow T.; Ruck T.; Sawada T.; Laszlo V.; L?scher W.; YIN-HSIU CHIEN ; PROPEL Study GroupThe Lancet Neurology3628
652021RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patientsHuang Y.-H.; Su T.-C.; Wang C.-H.; Wong S.-L.; YIN-HSIU CHIEN ; Wang Y.-T.; WUH-LIANG HWU ; NI-CHUNG LEE Scientific Data33
662021Nusinersen in spinal muscular atrophy type 1 from neonates to young adult: 1-year data from three Asia-Pacific regionsChan S.H.-S.; Chae J.-H.; YIN-HSIU CHIEN ; Ko T.-S.; Lee J.H.; Lee Y.J.; Nam S.O.; Jong Y.-J.Journal of Neurology, Neurosurgery and Psychiatry97
672020Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomesKuo C.-W.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Hsu C.; Hung M.-Z.; Lin I.-L.; FEI-PEI LAI ; NI-CHUNG LEE Molecular Genetics and Genomic Medicine99
682020Lessons for the clinical nephrologist: dietary management of adult-onset type II citrullinemia in chronic kidney disease: a nutritional dilemmaWeng, Hui-Ling; FENG-JUNG YANG ; YIN-HSIU CHIEN ; PEY-RONG CHEN ; Lin, Zi-Xuan; NI-CHUNG LEE ; WUH-LIANG HWU Journal of nephrology00
692020Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiencesYIN-HSIU CHIEN ; Tsai W.-H.; Chang C.-L.; Chiu P.-C.; Chou Y.-Y.; Tsai F.-J.; Wong S.-L.; NI-CHUNG LEE ; WUH-LIANG HWU Molecular Genetics and Metabolism Reports2826
702020Turner syndrome and cardiovascular anomalies: Care for girls and womenChiu H.-H.; YIN-HSIU CHIEN Pediatrics and Neonatology00
712020The timely needs for infantile onset pompe disease newborn screening—practice in TaiwanChiang S.-C.; YIN-HSIU CHIEN ; Chang K.-L.; NI-CHUNG LEE ; WUH-LIANG HWU International Journal of Neonatal Screening11
722020Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohortChen, Szu-Ju; BO-CHING LEE ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; CHIN-HSIEN LIN American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics00
732020Early initiation of high-dose oral ambroxol in combination with enzyme replacement therapy in a neuropathic Gaucher infantChu S.-Y.; Chien C.-C.; WUH-LIANG HWU ; Wang P.-J.; YIN-HSIU CHIEN Blood Cells, Molecules, and Diseases75
742020Development of newborn screening for pompe diseaseWUH-LIANG HWU ; YIN-HSIU CHIEN International Journal of Neonatal Screening00
752020Diversity in heritable disorders of connective tissue at a single centerHsu R.-H.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE Connective Tissue Research42
762020Newborn screening for Morquio disease and other lysosomal storage diseases: Results from the 8-plex assay for 70,000 newbornsYIN-HSIU CHIEN ; NI-CHUNG LEE ; Chen P.-W.; Yeh H.-Y.; Gelb M.H.; Chiu P.-C.; Chu S.-Y.; Lee C.-H.; Lee A.-R.; WUH-LIANG HWU Orphanet Journal of Rare Diseases3838
772020Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical centerLiu M.-Y.; CHENG-TING LEE ; NI-CHUNG LEE ; YI-CHING TUNG ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Tsai W.-Y.Journal of the Formosan Medical Association30
782020Long-term effects of medical management on growth and weight in individuals with urea cycle disordersPosset R.; Garbade S.F.; Gleich F.; Gropman A.L.; de Lonlay P.; Hoffmann G.F.; Garcia-Cazorla A.; Nagamani S.C.S.; Baumgartner M.R.; Schulze A.; Dobbelaere D.; Yudkoff M.; K?lker S.; Zielonka M.; Ah?Mew N.; Berry S.A.; McCandless S.E.; Coughlin C.; Enns G.; Gallagher R.C.; Burrage L.C.; Seminara J.; Harding C.O.; Burgard P.; Le?Mons C.; Merritt J.L.; II, Stricker T.; Bedoyan J.K.; Berry G.T.; Diaz G.A.; Wong D.; Tuchman M.; Waisbren S.; Weisfeld-Adams J.D.; Burlina A.B.; Le?o?Teles E.; Pedr?n-Giner C.; Lund A.M.; Dionisi-Vici C.; Williams M.; M?tze U.; Karall D.; Blasco-Alonso J.; Couce M.L.; Sykut-Cegielska J.; Augoustides-Savvopoulou P.; Ruiz?Gomez A.; Bari? I.; Schiff M.; YIN-HSIU CHIEN ; Lindner M.; Chabrol B.; Skouma A.; Zeman J.; Sokal E.; Santer R.; Eyskens F.; Freisinger P.; Pe?a-Quintana L.; Roland D.; Cort?s-Saladelafont E.; Djordjevic M.; Urea Cycle Disorders Consortium (UCDC), European registry; network for Intoxication type Metabolic Diseases (E-IMD)Scientific Reports157
792020REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sampleNI-CHUNG LEE ; WEI-CHUNG HSU ; Chang L.-M.; Chen Y.-C.; Huang P.-T.; Chien C.-C.; YIN-HSIU CHIEN ; CHI-LING CHEN ; WUH-LIANG HWU ; PEI-LIN LEE Journal of the Formosan Medical Association1414
802020Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019)Lin H.-Y.; Lee C.-L.; Chang C.-Y.; Chiu P.C.; YIN-HSIU CHIEN ; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU ; Lin S.J.; Lin J.-L.; Chao M.-C.; Chang T.-M.; Tsai W.-H.; Wang T.-J.; Chuang C.-K.; Lin S.-P.Orphanet Journal of Rare Diseases1613
812020Dietary intake and nutritional status of patients with phenylketonuria in TaiwanWeng, Hui-Ling; FENG-JUNG YANG ; PEY-RONG CHEN ; WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN Scientific reports43
822020Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease miceNI-CHUNG LEE ; Peng W.-H.; LI-KAI TSAI ; Lu Y.-H.; Wang H.-C.; Shih Y.-C.; Pung Z.-X.; Hu H.-Y.; WUH-LIANG HWU ; Tseng W.-Y.I.; YIN-HSIU CHIEN Scientific Reports22
832020Cardiac manifestations and gene mutations of patients with RASopathies in TaiwanLee C.-L.; Tan L.T.H.-C.; Lin H.-Y.; WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Chuang C.-K.; MEI-HWAN WU ; JOU-KOU WANG ; Chu S.-Y.; Lin J.-L.; Lo F.-S.; Su P.-H.; Hsu C.-C.; Ko Y.-Y.; Chen M.-R.; Chiu H.-C.; Lin S.-P.American Journal of Medical Genetics, Part A77
842020Composite Scores of Plasma Tau and β-Amyloids Correlate with Dementia in down SyndromeFang W.-Q.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Yang S.-Y.; Chieh J.-J.; Chang L.-M.; Huang A.-C.; NI-CHUNG LEE ; MING-JANG CHIU ACS Chemical Neuroscience44
852019Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern ChineseYu M.H.-C.; Tsang M.H.-Y.; Lai S.; Ho M.S.-P.; Tse D.M.L.; Willis B.; Kwong A.K.-Y.; Chou Y.-Y.; Lin S.-P.; Quinzii C.M.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Kuo P.-L.; Chan V.C.-M.; Tsoi C.; Chong S.-C.; Rodenburg R.J.T.; Smeitink J.; Mak C.C.-Y.; Yeung K.-S.; Fung J.L.-F.; Lam W.; Hui J.; NI-CHUNG LEE ; Fung C.-W.; Chung B.H.-Y.npj Genomic Medicine2723
862019High incidence of co-existing GLA variants and stroke susceptibilityYIN-HSIU CHIEN ; WUH-LIANG HWU European Journal of Neurology00
872019Electrical abnormalities in dopaminergic neurons of the substantia nigra in mice with an aromatic L-amino acid decarboxylase deficiencyHo S.-Y.; YIN-HSIU CHIEN ; LI-KAI TSAI ; Muramatsu S.-I.; WUH-LIANG HWU ; HORNG-HUEI LIOU ; NI-CHUNG LEE Frontiers in Cellular Neuroscience22
882019A review of aromatic l-amino acid decarboxylase (AADC) deficiency in TaiwanNI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU American Journal of Medical Genetics, Part C: Seminars in Medical Genetics139
892019International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuriaMuntau A.C.; Adams D.J.; B?langer-Quintana A.; Bushueva T.V.; Cerone R.; YIN-HSIU CHIEN ; Chiesa A.; Co?kun T.; de las Heras J.; Feillet F.; Katz R.; Lagler F.; Piazzon F.; Rohr F.; van Spronsen F.J.; Vargas P.; Wilcox G.; Bhattacharya K.Molecular Genetics and Metabolism4131
902019Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegsHsu R.-H.; WUH-LIANG HWU ; Chen M.; Chung I.-F.; STEVEN SHINN-FORNG PENG ; Chen C.-Y.; Cheng W.-C.; YIN-HSIU CHIEN ; NI-CHUNG LEE Pediatrics and Neonatology22
912019Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese populationChen S.-J.; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; CHIN-HSIEN LIN Brain and Behavior107
922019Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiencyHSIN-HUI YU ; Hu T.-C.; NI-CHUNG LEE ; YIN-HSIU CHIEN ; YAO-HSU YANG ; WUH-LIANG HWU ; BOR-LUEN CHIANG Journal of Microbiology, Immunology and Infection54
932019GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe RegistryReuser A.J.J.; van der Ploeg A.T.; YIN-HSIU CHIEN ; Llerena J.; Jr.; Abbott M.-A.; Clemens P.R.; Kimonis V.E.; Leslie N.; Maruti S.S.; Sanson B.-J.; Araujo R.; Periquet M.; Toscano A.; Kishnani P.S.; on behalf of the Pompe Registry SitesHuman Mutation5340
942019Clinical features of Pompe disease with motor neuronopathyLI-KAI TSAI ; WUH-LIANG HWU ; NI-CHUNG LEE ; PEI-HSIN HUANG ; YIN-HSIU CHIEN Neuromuscular Disorders97
952019Rare Concurrence of Two Congenital Disorders: Miller-Dieker Syndrome and T-Cell LymphopeniaChee S.-Y.; Guo J.-W.; Huang C.-J.; YIN-HSIU CHIEN ; Lee Y.-C.; Feng W.-K.Cytogenetic and Genome Research00
962019Decreased plasma L-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatmentMolema F.; Gleich F.; Burgard P.; van der Ploeg A.T.; Summar M.L.; Chapman K.A.; Lund A.M.; Rizopoulos D.; K?lker S.; Williams M.; H?rster F.; Jelsig A.M.; de Lonlay P.; Wijburg F.A.; Bosch A.; Freisinger P.; Posset R.; Augoustides-Savvopoulou P.; Avram P.; Deleanu C.; Baumgartner M.R.; H?berle J.; Blasco-Alonso J.; Burlina A.B.; Rubert L.; Cazorla A.G.; Saladelafont E.C.I.; Dionisi-Vici C.; Martinelli D.; Dobbelaere D.; Mention K.; Gr?newald S.; Chakrapani A.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Karall D.; Scholl-B?rgi S.; De Laet C.; Matsumoto S.; de Meirleir L.; Schiff M.; Pe?a-Quintana L.; Djordjevic M.; Sarajlija A.; Sykut-Cegielska J.; Wisniewska A.; Leao-Teles E.; Alves S.; Vara R.; Vives-Pinera I.; Gil-Ortega D.; Morris A.; Zeman J.; Honzik T.; Chabrol B.; Arnaudo F.; Cano A.; Thompson N.; Eyskens F.; Lindner M.; L?sebrink N.; Jalan A.; Sokal E.; Legros V.; Nassogne M.C.; Bari? I.; Additional individual contributors from E-IMDMolecular Genetics and Metabolism2520
972019Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese populationHsu R.-H.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Chang I.-F.; Ho H.-C.; Chou S.-P.; Huang T.-M.; NI-CHUNG LEE Orphanet Journal of Rare Diseases1614
982019Methylmalonic acidemia/propionic acidemia - The biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groupsChu T.-H.; YIN-HSIU CHIEN ; Lin H.-Y.; Liao H.-C.; Ho H.-J.; Lai C.-J.; Chiang C.-C.; Lin N.-C.; Yang C.-F.; WUH-LIANG HWU ; NI-CHUNG LEE ; Lin S.-P.; Liu C.-S.; REY-HENG HU ; MING-CHIH HO ; Niu D.-M.Orphanet Journal of Rare Diseases2421
992019Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiencyTseng C.-H.; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Hsu Y.-C.; STEVEN SHINN-FORNG PENG ; WEN-YIH TSENG ; WUH-LIANG HWU Annals of Neurology2018
1002019Congenital generalized lipodystrophy in TaiwanHsu R.-H.; Lin W.-D.; Chao M.-C.; Hsiao H.-P.; Wong S.-L.; Chiu P.-C.; Chu S.-Y.; Ke Y.-Y.; Lau B.-H.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Tsai F.-J.; Wang C.-H.; NI-CHUNG LEE Journal of the Formosan Medical Association118
1012019Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmiaJYH-MING JIMMY JUANG ; CHIA-TUNG SHUN ; YIH-SHARNG CHEN ; WUH-LIANG HWU ; NI-CHUNG LEE ; Tsai W.-H.; Chen N.-Q.; YIN-HSIU CHIEN Genetics in Medicine21
1022019Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segmentsLuo S.; Alexander Valencia C.; Zhang J.; NI-CHUNG LEE ; Slone J.; Gui B.; Wang X.; Li Z.; Dell S.; Brown J.; Chen S.M.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; PI-CHUAN FAN ; Wong L.-J.; Atwal P.S.; Huang T.Proceedings of the National Academy of Sciences of the United States of America97
1032019Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registryMolema F.; Gleich F.; Burgard P.; van der Ploeg A.T.; Summar M.L.; Chapman K.A.; Bari? I.; Lund A.M.; K?lker S.; Williams M.; H?rster F.; Jelsig A.M.; de Lonlay P.; Wijburg F.A.; Bosch A.; Freisinger P.; Posset R.; Augoustides-Savvopoulou P.; Avram P.; Deleanu C.; Baumgartner M.R.; H?berle J.; Blasco-Alonso J.; Burlina A.B.; Rubert L.; Cazorla A.G.; Saladelafont E.C.I.; Dionisi-Vici C.; Martinelli D.; Dobbelaere D.; Mention K.; Gr?newald S.; Chakrapani A.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Karall D.; Scholl-B?rgi S.; Lachmann R.; De Laet C.; Matsumoto S.; de Meirleir L.; M?hlhausen C.; Schiff M.; Pe?a-Quintana L.; Djordjevic M.; Sarajlija A.; Sykut-Cegielska J.; Wisniewska A.; Leao-Teles E.; Alves S.; Vara R.; Vives-Pinera I.; Ortega D.G.; Morris A.; Zeman J.; Honzik T.; Chabrol B.; Arnaudo F.; Cano A.; Thompson N.; Eyskens F.; Lindner M.; L?sebrink N.; Jalan A.; Sokal E.; Legros V.; Nassogne M.C.; Additional individual contributors from E-IMDJournal of Inherited Metabolic Disease3321
1042019Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?EN-TING WU ; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Hsu, Ching; Chen, Ting-Fu; Chen, Nai-Qi; HUNG-CHIEH CHOU ; PO-NIEN TSAO ; PI-CHUAN FAN ; I-JUNG TSAI ; Lin, Shuan-Pei; Hsieh, Wu-Shiun; Chang, Tung-Ming; CHI-NIEN CHEN ; Lee, Chen-Hao; Chou, Yen-Yin; Chiu, Pao-Chin; Tsai, Wen-Hui; Hsiung, Hann-Chang; FEI-PEI LAI ; NI-CHUNG LEE Pediatric Critical Care Medicine2723
1052019Monitoring of liver stiffness by transient elastography during the treatment of Gaucher diseaseChin C.-Y.; Hsu C.-T.; Lee C.-S.; YIN-HSIU CHIEN ; JIA-FENG WU Pediatrics and Neonatology22
1062018Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias (Journal of Inherited Metabolic Disease, (2016), 39, 3, (341-353), 10.1007/s10545-015-9907-8)Heringer J.; Valayannopoulos V.; Lund A.M.; Wijburg F.A.; Freisinger P.; Bari? I.; Baumgartner M.R.; Burgard P.; Burlina A.B.; Chapman K.A.; i Saladelafont E.C.; Karall D.; M?hlhausen C.; Riches V.; Schiff M.; Sykut-Cegielska J.; Walter J.H.; Zeman J.; Chabrol B.; K?lker S.; Aksglaede L.; Avram P.; Balmaseda-Serrano E.; Bauchart E.; Blasco-Alonso J.; Brassier A.; Chakrapani A.; YIN-HSIU CHIEN ; Couce M.L.; de Laet C.; de Lonlay P.; de Meirleir L.; Dionisi-Vici C.; Dobbelaere D.; Garcia-Cazorla A.; Gleich F.; Gradowska W.; Gr?newald S.; Haege G.; H?berle J.; WUH-LIANG HWU ; Ioannou H.; Lachmann R.; Langereis E.; Teles E.L.; L?pez-Laso E.; Matsumoto S.; de Baulny H.O.; Ortez C.; Pe?a-Quintana L.; Ruiz-Gomez A.; Sarajlija A.; Summar M.L.; Thompson N.; Vara R.; Pinera I.V.; Williams M.; Zielonka M.; Additional individual contributors of the E-IMD consortiumJournal of Inherited Metabolic Disease20
1072018A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease MiceNI-CHUNG LEE ; WUH-LIANG HWU ; Muramatsu S.-I.; Falk D.J.; Byrne B.J.; Cheng C.-H.; Shih N.-C.; Chang K.-L.; LI-KAI TSAI ; YIN-HSIU CHIEN Molecular Neurobiology2427
1082018Biparental inheritance of mitochondrial DNA in humansLuo S.; Valencia C.A.; Zhang J.; NI-CHUNG LEE ; Slone J.; Gui B.; Wang X.; Li Z.; Dell S.; Brown J.; Chen S.M.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; PI-CHUAN FAN ; Wong L.-J.; Atwal P.S.; Huang T.Proceedings of the National Academy of Sciences of the United States of America263227
1092018Natural history of aromatic L-amino acid decarboxylase deficiency in TaiwanWUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Li M.-H.JIMD Reports3031
1102018Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screeningSHIH-YAO LIU ; CHENG-TING LEE ; YI-CHING TUNG ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Tsai W.-Y.Journal of the Formosan Medical Association1011
1112018Performance of the four-plex tandem mass spectrometry lysosomal storage disease newborn screening test: The necessity of adding a 2nd tier test for Pompe diseaseChiang S.-C.; Chen P.-W.; WUH-LIANG HWU ; Lee A.-J.; Chen L.-C.; NI-CHUNG LEE ; Chiou L.-Y.; YIN-HSIU CHIEN International Journal of Neonatal Screening150
1122018Functional independence of Taiwanese children with Prader–Willi syndromeLee C.-L.; Lin H.-Y.; Tsai L.-P.; Chiu H.-C.; Tu R.-Y.; Huang Y.-H.; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Niu D.-M.; Chao M.-C.; Tsai F.-J.; Chou Y.-Y.; Chuang C.-K.; Lin S.-P.American Journal of Medical Genetics, Part A12
1132018SHOX deficiency in short Taiwanese children: A single-center experienceYI-CHING TUNG ; NI-CHUNG LEE ; WUH-LIANG HWU ; SHIH-YAO LIU ; CHENG-TING LEE ; YIN-HSIU CHIEN ; Tsai W.-Y.Journal of the Formosan Medical Association22
1142018Results of fabry disease screening in male pre-end stage renal disease patients with unknown etiology found through the platform of a chronic kidney disease education program in a Northern Taiwan medical centerLin C.-J.; YIN-HSIU CHIEN ; Lai T.-S.; Shih H.-M.; Chen Y.-C.; Pan C.-F.; Chen H.-H.; WUH-LIANG HWU ; Wu C.-J.Kidney and Blood Pressure Research2219
1152018Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: Data from the hunter outcome survey (HOS)Lin, Hsiang-Yu; Chuang, Chih-Kuang; Chen, Ming-Ren; Lin, Shio Jean; Chiu, Pao Chin; Niu, Dau-Ming; Tsai, Fuu-Jen; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Lin, Ju-Li; SHAU-PING LIN Orphanet Journal of Rare Diseases1111
1162018Gestational age, not transient hyperthyrotropinemia impacts brain white matter diffusion tensor imaging in premature infantsHung P.-L.; Lui C.-C.; Lee C.-C.; YIN-HSIU CHIEN ; Chen F.-S.; Chen C.-C.; Yu H.-R.; Chung M.-Y.; Huang L.-T.Experimental and Therapeutic Medicine11
1172018Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease – need for an earlier treatment?YIN-HSIU CHIEN ; NI-CHUNG LEE ; WUH-LIANG HWU ; Fang J.-Y.European Journal of Neurology54
1182017Family history of early infant death correlates with earlier age at diagnosis but not shorter time to diagnosis for severe combined immunodeficiencyWai Luk A.D.; Lee P.P.; Mao H.; Chan K.-W.; Chen X.Y.; Chen T.-X.; He J.X.; Kechout N.; Suri D.; Tao Y.B.; Xu Y.B.; Jiang L.P.; Liew W.K.; Jirapongsananuruk O.; Daengsuwan T.; Gupta A.; Singh S.; Rawat A.; Latiff A.H.A.; Lee A.C.W.; Shek L.P.; Nguyen T.V.A.; Chin T.J.; YIN-HSIU CHIEN ; Latiff Z.A.; Le T.M.H.; Le N.N.Q.; Lee B.W.; Li Q.; Raj D.; Barbouche M.-R.; Thong M.-K.; Ang M.C.D.; Wang X.C.; Xu C.G.; Yu H.G.; HSIN-HUI YU ; Lee T.L.; Yau F.Y.S.; Wong W.H.; Tu W.; Yang W.; Chong P.C.Y.; Ho M.H.K.; Lau Y.L.Frontiers in Immunology2624
1192017Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe diseaseYIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE ; Tsai F.-J.; Koeberl D.D.; Tsai W.-H.; Chiu P.-C.; Chang C.-L.Molecular Genetics and Metabolism Reports98
1202017Newborn screening for severe combined immunodeficiency in TaiwanYIN-HSIU CHIEN ; HSIN-HUI YU ; NI-CHUNG LEE ; Ho H.-C.; Kao S.-M.; MENG-YAO LU ; Jaing T.-H.; Lee W.-I.; Chang K.-W.; Shieh C.-C.; Chen J.-S.; Chiang S.-C.; Liu C.-C.; WUH-LIANG HWU International Journal of Neonatal Screening380
1212017A Review of Biomarkers for Alzheimer’s Disease in Down SyndromeNI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU Neurology and Therapy170
1222017Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn ScreeningYIN-HSIU CHIEN ; Chiang S.-C.; WEN-CHIN WENG ; NI-CHUNG LEE ; Lin C.-J.; Hsieh W.-S.; WANG-TSO LEE ; Jong Y.-J.; TSANG-MING KO ; WUH-LIANG HWU Journal of Pediatrics11491
1232017Genetic epidemiological study doesn't support GLA IVS4?+?919G?>?A variant is a significant mutation in Fabry diseaseChiang H.-L.; Wang N.H.-H.; Song I.-W.; Chang C.-P.; Wen M.-S.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Tsai F.-J.; Chen Y.-T.; Wu J.-Y.Molecular Genetics and Metabolism87
1242017Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe diseaseZeng Y.-T.; WUH-LIANG HWU ; Torng P.-C.; NI-CHUNG LEE ; JENG-YI SHIEH ; LU LU ; YIN-HSIU CHIEN European Journal of Paediatric Neurology1312
1252017Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trialYIN-HSIU CHIEN ; NI-CHUNG LEE ; SHENG-HONG TSENG ; CHUN-HWEI TAI ; Muramatsu S.-I.; Byrne B.J.; WUH-LIANG HWU The Lancet Child and Adolescent Health9588
1262017Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disordersBari? I.; Staufner C.; Augoustides-Savvopoulou P.; YIN-HSIU CHIEN ; Dobbelaere D.; Gr?nert S.C.; Opladen T.; Petkovi? Ramad?a D.; Raki? B.; Wedell A.; Blom H.J.Journal of Inherited Metabolic Disease4236
1272017Blood beta-amyloid and tau in down syndrome: A comparison with Alzheimer's diseaseNI-CHUNG LEE ; MING-JANG CHIU et al. ; Chieh J.-J.; Huang P.-T.; Chang L.-M.; YEN-NAN CHIU ; Huang A.-C.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Chiu M.-J.Frontiers in Aging Neuroscience4436
1282017Russell–Silver syndrome presenting with ambiguous genitaliaChang I.-F.; YIN-HSIU CHIEN ; Tsai W.-Y.; NI-CHUNG LEE Journal of the Formosan Medical Association22
1292016Advances in newborn screening for Pompe disease and resulting clinical outcomesYIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE Expert Opinion on Orphan Drugs00
1302016Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case seriesLin, Hsiang-Yu; Chuang, Chih-Kuang; Wang, Chung-Hsing; YIN-HSIU CHIEN ; Wang, Yu-Mei; Tsai, Fuu-Jen; Chou, Yen-Yin; Lin, Shio Jean; Pan, Hui-Ping; Niu, Dau-Ming; WUH-LIANG HWU ; Ke, Yu-Yuan; SHAU-PING LIN Molecular Genetics and Metabolism Reports2118
1312016Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012 Dr. Segolene AymeLin, Hsiang-Yu; Chuang, Chih-Kuang; Huang, Yu-Hsiu; Tu, Ru-Yi; Lin, Fang-Ju; Lin, Shio Jean; Chiu, Pao Chin; Niu, Dau-Ming; Tsai, Fuu-Jen; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Lin, Ju-Li; Chou, Yen-Yin; Tsai, Wen-Hui; Chang, Tung-Ming; SHAU-PING LIN Orphanet Journal of Rare Diseases2224
1322016Bioevaluation of sixteen ADMDP stereoisomers toward alpha-galactosidase A: Development of a new pharmacological chaperone for the treatment of Fabry disease and potential enhancement of enzyme replacement therapy efficiencyCheng W.-C.; Wang J.-H.; Li H.-Y.; Lu S.-J.; Hu J.-M.; Yun W.-Y.; Chiu C.-H.; Yang W.-B.; YIN-HSIU CHIEN ; WUH-LIANG HWU European Journal of Medicinal Chemistry1513
1332016Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene AymeSTEVEN SHINN-FORNG PENG ; WUH-LIANG HWU ; NI-CHUNG LEE ; Tsai F.-J.; Tsai W.-H.; YIN-HSIU CHIEN Orphanet Journal of Rare Diseases1719
1342016Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatographyLiu Y.-N.; Liu T.-T.; Fan Y.-L.; Niu D.-M.; YIN-HSIU CHIEN ; Chou Y.-Y.; NI-CHUNG LEE ; Hsiao K.-J.; Chiu Y.-H.Clinica Chimica Acta44
1352016Hypothermia improves disease manifestations in SMA mice via SMN augmentationLI-KAI TSAI ; Chen C.-L.; Tsai Y.-C.; Ting C.-H.; YIN-HSIU CHIEN ; Lee N.-C.; WUH-LIANG HWU Human Molecular Genetics44
1362016Integrated care for Down syndromeNI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU Congenital Anomalies11
13720163-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiencyYIN-HSIU CHIEN ; Chen P.-W.; NI-CHUNG LEE ; Hsieh W.-S.; Chiu P.-C.; WUH-LIANG HWU ; Tsai F.-J.; Lin S.-P.; Chu S.-Y.; Jong Y.-J.; Chao M.-C.Molecular Genetics and Metabolism5142
1382016Long-term outcome for Down syndrome patients with hematopoietic disordersMENG-JU LI ; NI-CHUNG LEE ; YUNG-LI YANG ; Yen H.-J.; HSIU-HAO CHANG ; YIN-HSIU CHIEN ; MENG-YAO LU ; SHIANN-TANG JOU ; Lin K.-H.; WUH-LIANG HWU ; Lin D.-T.Journal of the Formosan Medical Association54
1392015Baseline urinary glucose tetrasaccharide concentrations in patients with infantile- and late-onset pompe disease identified by newborn screeningYIN-HSIU CHIEN ; Goldstein J.L.; WUH-LIANG HWU ; Smith P.B.; NI-CHUNG LEE ; Chiang S.-C.; Tolun A.A.; Zhang H.; Vaisnins A.E.; Millington D.S.; Kishnani P.S.; Young S.P.JIMD Reports290
1402015Incidence of severe combined immunodeficiency through newborn screening in a Chinese populationYIN-HSIU CHIEN ; Chiang S.-C.; Chang K.-L.; HSIN-HUI YU ; Lee W.-I.; Tsai L.-P.; Hsu L.-W.; Hu M.-H.; WUH-LIANG HWU Journal of the Formosan Medical Association5537
1412015Congenital malformations in newborns - A challenge unmet for decadesNI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU Pediatrics and Neonatology11
1422015Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter DeficiencyNI-CHUNG LEE ; Muramatsu S.-I.; YIN-HSIU CHIEN ; Liu W.-S.; Wang W.-H.; Cheng C.-H.; Hu M.-K.; Chen P.-W.; KAI-YUAN TZEN ; Byrne B.J.; WUH-LIANG HWU Molecular Therapy2119
1432015X-linked hyper-IgM syndrome with CD40LG mutation: Two case reports and literature review in Taiwanese patientsTsai H.-Y.; HSIN-HUI YU ; YIN-HSIU CHIEN ; Chu K.-H.; Lau Y.-L.; JYH-HONG LEE ; LI-CHIEH WANG ; BOR-LUEN CHIANG ; YAO-HSU YANG Journal of Microbiology, Immunology and Infection2520
1442015Mudd's disease (MAT I/III deficiency): A survey of data for MAT1A homozygotes and compound heterozygotesYIN-HSIU CHIEN ; Abdenur J.E.; Baronio F.; Bannick A.A.; Corrales F.; Couce M.; Donner M.G.; Ficicioglu C.; Freehauf C.; Frithiof D.; Gotway G.; Hirabayashi K.; Hofstede F.; Hoganson G.; WUH-LIANG HWU ; James P.; Kim S.; Korman S.H.; Lachmann R.; Levy H.; Lindner M.; Lykopoulou L.; Mayatepek E.; Muntau A.; Okano Y.; Raymond K.; Rubio-Gozalbo E.; Scholl-B?rgi S.; Schulze A.; Singh R.; Stabler S.; Stuy M.; Thomas J.; Wagner C.; Wilson W.G.; Wortmann S.; Yamamoto S.; Pao M.; Blom H.J.Orphanet Journal of Rare Diseases3526
1452015Long-term prognosis of patients with infantile-onset pompe disease diagnosed by newborn screening and treated since birthYIN-HSIU CHIEN ; NI-CHUNG LEE ; CHUN-AN CHEN ; Tsai, Fuu-Jen; Tsai, Wen-Hui; JENG-YI SHIEH ; Huang, Hsiang-Ju; WEI-CHUNG HSU ; TZU-HSUN TSAI ; WUH-LIANG ​​HWU Journal of Pediatrics10589
1462015Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutationHsiue H.-C.; NI-CHUNG LEE ; Tsai H.-B.; Yang C.-C.; Wu C.-S.; WANG-TSO LEE ; WEN-CHIN WENG ; PI-CHUAN FAN ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Hung K.-L.; Huang C.-C.; Chen C.-H.; Lin S.-J.; Chu S.-Y.; Wang T.-J.; Lu C.-J.; PEI-LIN LEE Intensive Care Medicine11
1472014Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotypeLee D.-H.; Qiu W.-J.; Lee J.; YIN-HSIU CHIEN ; WUH-LIANG HWU JIMD Reports300
1482014Clinical characteristics and outcomes of primary antibody deficiency: A 20-year follow-up studyChan H.-Y.; YAO-HSU YANG ; HSIN-HUI YU ; YIN-HSIU CHIEN ; Chiang L.-L.; BOR-LUEN CHIANG Journal of the Formosan Medical Association1714
1492014Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolismI-JUNG TSAI ; WUH-LIANG HWU ; SHU-CHIEN HUANG ; NI-CHUNG LEE ; EN-TING WU ; YIN-HSIU CHIEN ; Tsau Y.-K.Pediatric Nephrology1413
1502014The value of muscle biopsies in Pompe disease: Identifying lipofuscin inclusions in juvenile- and adult-onset patientsFeeney E.J.; Austin S.; YIN-HSIU CHIEN ; Mandel H.; Schoser B.; Prater S.; WUH-LIANG HWU ; Ralston E.; Kishnani P.S.; Raben N.Acta Neuropathologica Communications4846
1512014Development of a feasible assay for the detection of GAA mutations in patients with Pompe diseaseEr T.-K.; Chen C.-C.; YIN-HSIU CHIEN ; Liang W.-C.; Kan T.-M.; Jong Y.-J.Clinica Chimica Acta65
1522014Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vectorNI-CHUNG LEE ; YIN-HSIU CHIEN ; Hu M.-H.; Liu W.-S.; Chen P.-W.; Wang W.-H.; KAI-YUAN TZEN ; Byrne B.J.; WUH-LIANG HWU Human Gene Therapy1515
1532014Parental discussion of G6PD deficiency and child health: Implications for clinical practiceGuan Y.; Roter D.L.; Huang A.; Erby L.A.H.; YIN-HSIU CHIEN ; WUH-LIANG HWU Archives of Disease in Childhood11
1542014Application of mass spectrometry in newborn screening: About both small molecular diseases and lysosomal storage diseasesWUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Wang S.-F.; Chiang S.-C.; Hsu L.-W.Topics in Current Chemistry65
1552014Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe diseaseYIN-HSIU CHIEN ; NI-CHUNG LEE ; Tsai Y.-J.; Thurberg B.L.; Tsai F.-J.; WUH-LIANG HWU Muscle and Nerve66
1562014Two Frequent Mutations Associated with the Classic Form of Propionic Acidemia in TaiwanChiu Y.-H.; Liu Y.-N.; Liao W.-L.; Chang Y.-C.; Lin S.-P.; Hsu C.-C.; Chiu P.-C.; Niu D.-M.; Wang C.-H.; Ke Y.-Y.; YIN-HSIU CHIEN ; Hsiao K.-J.; Liu T.-T.Biochemical Genetics1413
1572014Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfectaLin C.-H.; YIN-HSIU CHIEN ; STEVEN SHINN-FORNG PENG ; Tsai W.-Y.; YI-CHING TUNG ; CHENG-TING LEE ; Chien C.-C.; WUH-LIANG HWU ; NI-CHUNG LEE Pediatrics and Neonatology98
1582014Outcome of early-treated type III Gaucher disease patientsNI-CHUNG LEE ; YIN-HSIU CHIEN ; Wong S.-L.; Sheen J.-M.; Tsai F.-J.; STEVEN SHINN-FORNG PENG ; Leung J.H.; Chao M.-C.; CHIA-TUNG SHUN ; WUH-LIANG HWU Blood Cells, Molecules, and Diseases2218
1592014Diagnosis of aromatic l-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spotsChen P.-W.; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Wu J.-Y.; Wang P.-C.; WUH-LIANG HWU Clinica Chimica Acta2927
1602013AADC Deficiency: Occurring in Humans; Modeled in Rodents; Treated in PatientsWUH-LIANG HWU ; NI-CHUNG LEE ; Shieh Y.-D.; KAI-YUAN TZEN ; Chen P.-W.; Muramatsu S.-I.; Ichinose H.; YIN-HSIU CHIEN Catecholamine Research in the 21st Century: Abstracts and Graphical Abstracts, 10th International Catecholamine Symposium, 201200
1612013Erratum: Enzyme replacement therapy for mucopolysaccharidosis VI - Experience in Taiwan (Journal of Inherited Metabolic Disease DOI: 10.1007/s20545-101-9212-5)Lin H.-Y.; Chen M.-R.; Chuang C.-K.; Chen C.-P.; Lin D.-S.; YIN-HSIU CHIEN ; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; WUH-LIANG HWU ; Niu D.-M.; NI-CHUNG LEE ; Lin S.-P.Journal of Inherited Metabolic Disease01
1622013The Ethical Issues and National Policy in Population-based Genetic ScreeningDANIEL FU-CHANG TSAI ; Chung L.-Y.; YIN-HSIU CHIEN ; WUH-LIANG ​​HWU Formosan Journal of Medicine00
1632013Clinical features and genetic analysis of Taiwanese patients with the hyper IgM syndrome phenotypeLee W.-I.; Huang J.-L.; Yeh K.-W.; Yang M.-J.; Lai M.-C.; Chen L.-C.; Ou L.-S.; Yao T.-C.; Lin S.-J.; Jaing T.-H.; Chen S.-H.; Hsieh M.-Y.; HSIN-HUI YU ; YIN-HSIU CHIEN ; Shyur S.-D.Pediatric Infectious Disease Journal2118
1642013Myostatin and Insulin-Like Growth Factor I: Potential Therapeutic Biomarkers for Pompe DiseaseYIN-HSIU CHIEN ; DER-SHENG HAN ; WUH-LIANG HWU ; Thurberg B.L.; WEI-SHIUNG YANG PLoS ONE1514
1652013Analysis of lyso-globotriaosylsphingosine in dried blood spotsJohnson B.; Mascher H.; Mascher D.; Legnini E.; Hung C.Y.; Dajnoki A.; YIN-HSIU CHIEN ; Maródi L.; WUH-LIANG HWU ; Bodamer O.A.Annals of Laboratory Medicine2624
1662013Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous originWang J.; Cui H.; NI-CHUNG LEE ; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Craigen W.J.; Wong L.-J.; Zhang V.W.Genetics in Medicine6447
1672013Lung toxicity of hydroxypropyl-β-cyclodextrin infusionYIN-HSIU CHIEN ; Shieh Y.-D.; Yang C.-Y.; NI-CHUNG LEE ; WUH-LIANG HWU Molecular Genetics and Metabolism2824
1682013Web-based newborn screening system for metabolic diseases: Machine learning versus cliniciansChen, W.-H.; Hsieh, S.-L.; Hsu, K.-P.; Chen, H.-P.; Su, X.-Y.; Tseng, Y.-J.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; FEI-PEI LAI Journal of Medical Internet Research1613
1692013Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutationYIN-HSIU CHIEN ; Bodamer O.A.; Chiang S.-C.; Mascher H.; Hung C.; WUH-LIANG HWU Journal of Inherited Metabolic Disease1816
1702013Regulation of the dopaminergic system in a murine model of aromatic l-amino acid decarboxylase deficiencyNI-CHUNG LEE ; Shieh Y.-D.; YIN-HSIU CHIEN ; KAI-YUAN TZEN ; Yu I.-S.; Chen P.-W.; Hu M.-H.; Hu M.-K.; Muramatsu S.-I.; Ichinose H.; WUH-LIANG HWU Neurobiology of Disease3330
1712013Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype CorrelationChen Y.-C.; YIN-HSIU CHIEN ; Chen P.-W.; Leung-Sang Tang N.; Chiu P.-C.; WUH-LIANG HWU ; NI-CHUNG LEE Human Mutation1312
1722013Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type CYIN-HSIU CHIEN ; STEVEN SHINN-FORNG PENG ; Yang C.C.; NI-CHUNG LEE ; LI-KAI TSAI ; Huang A.C.; Su S.C.; Tseng C.C.; WUH-LIANG HWU Journal of Inherited Metabolic Disease3234
1732013Pompe disease: Early diagnosis and early treatment make a differenceYIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE Pediatrics and Neonatology129107
1742013AADC deficiency. Occurring in humans, modeled in rodents.WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Muramatsu S.-I.; Ichinose H.Advances in Pharmacology129
1752013Promising outcomes in glutaric aciduria type i patients detected by newborn screeningLee C.-S.; YIN-HSIU CHIEN ; STEVEN SHINN-FORNG PENG ; Cheng P.-W.; Chang L.-M.; Huang A.-C.; WUH-LIANG HWU ; NI-CHUNG LEE Metabolic Brain Disease3426
1762013Fatty acid oxidation disorders in a chinese population in TaiwanYIN-HSIU CHIEN ; NI-CHUNG LEE ; Chao M.-C.; Chen L.-C.; Chen L.-H.; Chien C.-C.; Ho H.-C.; Suen J.-H.; WUH-LIANG HWU JIMD Reports250
1772013Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular testsWang L.-Y.; Chen N.-I.; Chen P.-W.; Chiang S.-C.; WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN BMC Medical Genetics2624
1782013Diagnosing mucopolysaccharidosis IVAWood T.C.; Harvey K.; Beck M.; Burin M.G.; YIN-HSIU CHIEN ; Church H.J.; D'Almeida V.; Van Diggelen O.P.; Fietz M.; Giugliani R.; Harmatz P.; Hawley S.M.; WUH-LIANG HWU ; Ketteridge D.; Lukacs Z.; Miller N.; Pasquali M.; Schenone A.; Thompson J.N.; Tylee K.; Yu C.; Hendriksz C.J.Journal of Inherited Metabolic Disease7471
1792012Newborn screening for phenylketonuria: Machine learning vs cliniciansChen W.-H.; Chen H.-P.; Tseng Y.-J.; Hsu K.-P.; Hsieh S.-L.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Lai F.Proceedings of the 2012 IEEE/ACM International Conference on Advances in Social Networks Analysis and Mining, ASONAM 201230
1802012Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification (vol 20, pg 4851, 2011)HSIANG-PO HUANG ; Chen, PH; WUH-LIANG ​​HWU; Chuang, CY; YIN-HSIU CHIEN ; Stone, L; CHUNG-LIANG CHIEN ; Li, LT; Chiang, SC; HSIN-FU CHEN ; HONG-NERNG HO ; Chen, CH; Kuo, HCHUMAN MOLECULAR GENETICS00
1812012Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancerWEN-HUNG KUO ; PO-HAN LIN ; Huang A.-C.; YIN-HSIU CHIEN ; Liu T.-P.; YEN-SHEN LU ; Bai L.-Y.; Sargeant A.M.; CHING-HUNG LIN ; ANN-LII CHENG ; FON-JOU HSIEH ; WUH-LIANG HWU ; KING-JEN CHANG Journal of Human Genetics1919
1822012Integrating human genome database into electronic health record with sequence alignment and compression mechanismChen W.-H.; Lu Y.-W.; Lai F.; YIN-HSIU CHIEN ; WUH-LIANG HWU Journal of Medical Systems65
1832012Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: Diagnosis and novel mutation revealed by exome sequencingKim J.C.; NI-CHUNG LEE ; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Fahiminiya S.; Majewski J.; Watkins D.; Rosenblatt D.S.Molecular Genetics and Metabolism2824
1842012Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring systemChen S.-T.; Su Y.-N.; YEN-HSUAN NI ; WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Chang C.-C.; HUEY-LING CHEN ; MEI-HWEI CHANG Journal of Pediatrics1512
1852012Algorithm for Pompe disease newborn screening: Results from the Taiwan screening programChiang S.-C.; WUH-LIANG HWU ; NI-CHUNG LEE ; Hsu L.-W.; YIN-HSIU CHIEN Molecular Genetics and Metabolism6963
1862012A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a childLiu H.-M.; Tsai L.-P.; YIN-HSIU CHIEN ; JIA-FENG WU ; WEN-CHIN WENG ; STEVEN SHINN-FORNG PENG ; EN-TING WU ; PEI-HSIN HUANG ; WANG-TSO LEE ; I-JUNG TSAI ; WUH-LIANG HWU ; NI-CHUNG LEE Pediatrics and Neonatology109
1872012Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: Systematic literature review and evidence from studies with miglustatWalterfang M.; YIN-HSIU CHIEN ; Imrie J.; Rushton D.; Schubiger D.; Patterson M.C.Orphanet Journal of Rare Diseases5751
1882012Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutationLi S.-C.; WUH-LIANG HWU ; Lin J.-L.; Bali D.S.; Yang C.; Chu S.-M.; YIN-HSIU CHIEN ; HUNG-CHIEH CHOU ; CHIEN-YI CHEN ; Hsieh W.-S.; PO-NIEN TSAO ; Chen Y.-T.; NI-CHUNG LEE Journal of Child Neurology1310
1892012Enhanced interpretation of newborn screening results without analyte cutoff valuesMarquardt G.; Currier R.; McHugh D.M.S.; Gavrilov D.; Magera M.J.; Matern D.; Oglesbee D.; Raymond K.; Rinaldo P.; Smith E.H.; Tortorelli S.; Turgeon C.T.; Lorey F.; Wilcken B.; Wiley V.; Greed L.C.; Lewis B.; Boemer F.; Schoos R.; Marie S.; Vincent M.-F.; Sica Y.C.; Domingos M.T.; Al-Thihli K.; Sinclair G.; Al-Dirbashi O.Y.; Chakraborty P.; Dymerski M.; Porter C.; Manning A.; Seashore M.R.; Quesada J.; Reuben A.; Chrastina P.; Hornik P.; Atef Mandour I.; Atty Sharaf S.A.; Bodamer O.; Dy B.; Torres J.; Zori R.; Cheillan D.; Vianey-Saban C.; Ludvigson D.; Stembridge A.; Bonham J.; Downing M.; Dotsikas Y.; Loukas Y.L.; Papakonstantinou V.; Zacharioudakis G.S.A.; Bar?th K.; Karg E.; Franzson L.; Jonsson J.J.; Breen N.N.; Lesko B.G.; Berberich S.L.; Turner K.; Ruoppolo M.; Scolamiero E.; Antonozzi I.; Carducci C.; Caruso U.; Cassanello M.; La Marca G.; Pasquini E.; Di Gangi I.M.; Giordano G.; Camilot M.; Teofoli F.; Manos S.M.; Peterson C.K.; Mayfield Gibson S.K.; Sevier D.W.; Lee S.-Y.; Park H.-D.; Khneisser I.; Browning P.; Gulamali-Majid F.; Watson M.S.; Eaton R.B.; Sahai I.; Ruiz C.; Torres R.; Seeterlin M.A.; Stanley E.L.; Hietala A.; McCann M.; Campbell C.; Hopkins P.V.; De Sain-Van Der Velden M.G.; Elvers B.; Morrissey M.A.; Sunny S.; Knoll D.; Webster D.; Frazier D.M.; McClure J.D.; Sesser D.E.; Willis S.A.; Rocha H.; Vilarinho L.; John C.; Lim J.; Caldwell S.G.; Tomashitis K.; Cast?eiras Ramos D.E.; Cocho De Juan J.A.; Rueda Fern?ndez I.; Yahyaoui Mac?as R.; Egea-Mellado J.M.; Gonz?lez-Gallego I.; Delgado Pecellin C.; Garc?a-Valdecasas Bermejo M.S.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Childs T.; McKeever C.D.; Tanyalcin T.; Abdulrahman M.; Queijo C.; Lemes A.; Davis T.; Hoffman W.; Mei B.; Hoffman G.L.Genetics in Medicine10997
1902012Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.YIN-HSIU CHIEN ; NI-CHUNG LEE ; Chiang S.C.; Desnick R.J.; WUH-LIANG HWU Molecular medicine (Cambridge, Mass.)6959
1912012An acidic oligopeptide displayed on AAV2 improves axial muscle tropism after systemic deliveryNI-CHUNG LEE ; Falk D.J.; Byrne B.J.; Conlon T.J.; Clement N.; Porvasnik S.; Jorgensen M.L.; Potter M.; Erger K.E.; Watson R.; Ghivizzani S.C.; Chiu H.-C.; YIN-HSIU CHIEN ; WUH-LIANG HWU Genetic Vaccines and Therapy40
1922012Early pathologic changes and responses to treatment in patients with later-onset Pompe diseaseYIN-HSIU CHIEN ; NI-CHUNG LEE ; PEI-HSIN HUANG ; WANG-TSO LEE ; Thurberg B.L.; WUH-LIANG HWU Pediatric Neurology2016
1932012Gene therapy for aromatic L-amino acid decarboxylase deficiencyWUH-LIANG HWU ; Muramatsu S.-I.; SHENG-HONG TSENG ; KAI-YUAN TZEN ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Snyder R.O.; Byrne B.J.; CHUN-HWEI TAI ; RUEY-MEEI WU Science Translational Medicine188170
1942011Rapid progressive course of later-onset Pompe disease in Chinese patientsYang C.-C.; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Chiang S.-C.; Lin S.-P.; Kuo Y.-T.; Chen S.-S.; Jong Y.-J.; WUH-LIANG HWU Molecular Genetics and Metabolism3938
1952011A reliable password-based user authentication scheme for web-based human genome database systemChen W.-H.; Wu Z.-Y.; Lai F.; YIN-HSIU CHIEN ; WUH-LIANG HWU IEEE International Conference on Digital Ecosystems and Technologies00
1962011Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapyCHUN-AN CHEN ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE ; JOU-KOU WANG ; Chen L.-R.; CHUN-WEI LU ; MING-TAI LIN ; SHUENN-NAN CHIU ; Chiu H.-H.; MEI-HWAN WU Journal of Cardiac Failure2724
1972011Cerebral diffusion tensor images in infants and neonates with infantile onset pompe diseaseSTEVEN SHINN-FORNG PENG ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; HON-MAN LIU ; WEN-YIH TSENG Biomedical Engineering - Applications, Basis and Communications11
1982011Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985-2010Lee W.-I.; Huang J.-L.; Jaing T.-H.; Shyur S.-D.; Yang K.D.; YIN-HSIU CHIEN ; BOR-LUEN CHIANG ; Soong W.-J.; Chiou S.-S.; Shieh C.-C.; Lin S.-J.; Yeh K.-W.; Chen L.-C.; Ou L.-S.; Yao T.-C.; Lin T.-Y.; Chiu C.-H.; Huang Y.-C.; Wu K.-H.; Lin C.-Y.; HSIN-HUI YU ; YAO-HSU YANG ; Yu H.-R.; Yen H.-J.; Hsieh M.-Y.; Kuo M.-L.; WUH-LIANG HWU ; Tsai Y.-C.; Kuo H.-C.; Lin Y.-L.; Shih Y.-F.; Chang K.-W.Immunobiology4538
1992011Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identificationHSIANG-PO HUANG ; Chen P.-H.; WUH-LIANG HWU ; Chuang C.-Y.; YIN-HSIU CHIEN ; Stone L.; CHUNG-LIANG CHIEN ; Li L.-T.; Chiang S.-C.; HSIN-FU CHEN ; HONG-NERNG HO ; Chen C.-H.; Kuo H.-C.Human Molecular Genetics111105
2002011Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motifEr T.-K.; Chen C.-C.; Liu Y.-Y.; Chang H.-C.; YIN-HSIU CHIEN ; Chang J.-G.; Hwang J.-K.; Jong Y.-J.BMC Structural Biology3028
2012011Congenital hypopituitarism due to POU1F1 gene mutationNI-CHUNG LEE ; Tsai W.-Y.; STEVEN SHINN-FORNG PENG ; YI-CHING TUNG ; YIN-HSIU CHIEN ; WUH-LIANG HWU Journal of the Formosan Medical Association76
2022011Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative projectMcHugh D.M.S.; Cameron C.A.; Abdenur J.E.; Abdulrahman M.; Adair O.; Al Nuaimi S.A.; ?hlman H.; Allen J.J.; Antonozzi I.; Archer S.; Au S.; Auray-Blais C.; Baker M.; Bamforth F.; Beckmann K.; Pino G.B.; Berberich S.L.; Binard R.; Boemer F.; Bonham J.; Breen N.N.; Bryant S.C.; Caggana M.; Caldwell S.G.; Camilot M.; Campbell C.; Carducci C.; Cariappa R.; Carlisle C.; Caruso U.; Cassanello M.; Castilla A.M.; Ramos D.E.C.; Chakraborty P.; Chandrasekar R.; Ramos A.C.; Cheillan D.; YIN-HSIU CHIEN ; Childs T.A.; Chrastina P.; Sica Y.C.; Cocho De Juan J.A.; Colandre M.E.; Espinoza V.C.; Corso G.; Currier R.; Cyr D.; Czuczy N.; D'Apolito O.; Davis T.; De Sain-Van Der Velden M.G.; Pecellin C.D.; Di Gangi I.M.; Di Stefano C.M.; Dotsikas Y.; Downing M.; Downs S.M.; Dy B.; Dymerski M.; Rueda I.; Elvers B.; Eaton R.; Eckerd B.M.; El Mougy F.; Eroh S.; Espada M.; Evans C.; Fawbush S.; Fijolek K.F.; Fisher L.; Franzson L.; Frazier D.M.; Garcia L.R.C.; Bermejo M.S.G.-V.; Gavrilov D.; Gerace R.; Giordano G.; Irazabal Y.G.; Greed L.C.; Grier R.; Grycki E.; Gu X.; Gulamali-Majid F.; Hagar A.F.; Han L.; Hannon W.H.; Haslip C.; Hassan F.A.; He M.; Hietala A.; Himstedt L.; Hoffman G.L.; Hoffman W.; Hoggatt P.; Hopkins P.V.; Hougaard D.M.; Hughes K.; Hunt P.R.; WUH-LIANG HWU ; Hynes J.; Ibarra-Gonz?lez I.; Ingham C.A.; Ivanova M.; Jacox W.B.; John C.; Johnson J.P.; J?nsson J.J.; Karg E.; Kasper D.; Klopper B.; Katakouzinos D.; Khneisser I.; Knoll D.; Kobayashi H.; Koneski R.; Ko?ich V.; Kouapei R.; Kohlmueller D.; Kremensky I.; La Marca G.; Lavochkin M.; Lee S.-Y.; Lehotay D.C.; Lemes A.; Lepage J.; Lesko B.; Lewis B.; Lim C.; Linard S.; Lindner M.; Lloyd-Puryear M.A.; Lorey F.; Loukas Y.L.; Luedtke J.; Maffitt N.; Magee J.F.; Manning A.; Manos S.; Marie S.; Hadachi S.M.; Marquardt G.; Martin S.J.; Matern D.; Gibson S.K.M.; Mayne P.; McCallister T.D.; McCann M.; McClure J.; McGill J.J.; McKeever C.D.; McNeilly B.; Morrissey M.A.; Moutsatsou P.; Mulcahy E.A.; Nikoloudis D.; Norgaard-Pedersen B.; Oglesbee D.; Oltarzewski M.; Ombrone D.; Ojodu J.; Papakonstantinou V.; Reoyo S.P.; Park H.-D.; Pasquali M.; Pasquini E.; Patel P.; Pass K.A.; Peterson C.; Pettersen R.D.; Pitt J.J.; Poh S.; Pollak A.; Porter C.; Poston P.A.; Price R.W.; Queijo C.; Quesada J.; Randell E.; Ranieri E.; Raymond K.; Reddic J.E.; Reuben A.; Ricciardi C.; Rinaldo P.; Rivera J.D.; Roberts A.; Rocha H.; Roche G.; Greenberg C.R.; Mellado J.M.E.; Juan-Fita M.J.; Ruiz C.; Ruoppolo M.; Rutledge S.L.; Ryu E.; Saban C.; Sahai I.; Garc?a-Blanco M.I.S.; Santiago-Borrero P.; Schenone A.; Schoos R.; Schweitzer B.; Scott P.; Seashore M.R.; Seeterlin M.A.; Sesser D.E.; Sevier D.W.; Shone S.M.; Sinclair G.; Skrinska V.A.; Stanley E.L.; Strovel E.T.; Jones A.L.S.; Sunny S.; Takats Z.; Tanyalcin T.; Teofoli F.; Thompson J.R.; Tomashitis K.; Domingos M.T.; Torres J.; Torres R.; Tortorelli S.; Turi S.; Turner K.; Tzanakos N.; Valiente A.G.; Vallance H.; Vela-Amieva M.; Vilarinho L.; Von D?beln U.; Vincent M.-F.; Vorster B.C.; Watson M.S.; Webster D.; Weiss S.; Wilcken B.; Wiley V.; Williams S.K.; Willis S.A.; Woontner M.; Wright K.; Yahyaoui R.; Yamaguchi S.; Yssel M.; Zakowicz W.M.Genetics in Medicine284258
2032011SLC25A13 gene mutations in Taiwanese patients with non-viralhepatocellular carcinomaChang K.-W.; HUEY-LING CHEN ; YIN-HSIU CHIEN ; Chen T.-C.; Yeh C.-T.Molecular Genetics and Metabolism1920
2042011Later-onset pompe disease: Early detection and early treatment initiation enabled by newborn screeningYIN-HSIU CHIEN ; NI-CHUNG LEE ; Huang H.-J.; Thurberg B.L.; Tsai F.-J.; WUH-LIANG HWU Journal of Pediatrics8470
2052011Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry diseaseYIN-HSIU CHIEN ; Olivova P.; Zhang X.K.; Chiang S.-C.; NI-CHUNG LEE ; Keutzer J.; WUH-LIANG HWU Molecular Genetics and Metabolism109
2062010CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiencyChang K.-L.; WUH-LIANG HWU ; Yeh H.-Y.; NI-CHUNG LEE ; YIN-HSIU CHIEN Blood Cells, Molecules, and Diseases1715
2072010Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantationChen P.W.; WUH-LIANG HWU ; MING-CHIH HO ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; YEN-HSUAN NI ; PO-HUANG LEE Pediatric Transplantation3332
2082010Diagnoses of newborns and mothers with carnitine uptake defects through newborn screeningNI-CHUNG LEE ; Tang N.L.-S.; YIN-HSIU CHIEN ; CHUN-AN CHEN ; Lin S.-J.; Chiu P.-C.; Huang A.-C.; WUH-LIANG HWU Molecular Genetics and Metabolism8464
2092010Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot programLabrousse P.; YIN-HSIU CHIEN ; Pomponio R.J.; Keutzer J.; NI-CHUNG LEE ; Akmaev V.R.; Scholl T.; WUH-LIANG HWU Molecular Genetics and Metabolism9279
2102010Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: Implications for therapyRaben N.; Ralston E.; YIN-HSIU CHIEN ; Baum R.; Schreiner C.; WUH-LIANG HWU ; Zaal K.J.M.; Plotz P.H.Molecular Genetics and Metabolism6257
2112010Enzyme replacement therapy for mucopolysaccharidosis VI-experience in TaiwanLin H.-Y.; Chen M.-R.; Chuang C.-K.; Chen C.-P.; Lin D.-S.; YIN-HSIU CHIEN ; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; WUH-LIANG HWU ; Niu D.-M.; NI-CHUNG LEE ; Lin S.-P.Journal of Inherited Metabolic Disease1915
2122010Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemiaFern?ndez-Irigoyen J.; Santamar?a E.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Korman S.H.; Faghfoury H.; Schulze A.; Hoganson G.E.; Stabler S.P.; Allen R.H.; Wagner C.; Mudd S.H.; Corrales F.J.Molecular Genetics and Metabolism2727
2132010Nationwide survey of extended newborn screening by tandem mass spectrometry in TaiwanNiu D.-M.; YIN-HSIU CHIEN ; Chiang C.-C.; Ho H.-C.; WUH-LIANG HWU ; Kao S.-M.; Chiang S.-H.; Kao C.-H.; Liu T.-T.; Chiang H.; Hsiao K.-J.Journal of Inherited Metabolic Disease130111
2142010Newborn screening healthcare information system based on service-oriented architectureHsieh, S.-H.; Hsieh, S.-L.; YIN-HSIU CHIEN ; Weng, Y.-C.; Hsu, K.-P.; Chen, C.-H.; Tu, C.-M.; Wang, Z.; FEI-PEI LAI Journal of Medical Systems96
2152010Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher diseaseYIN-HSIU CHIEN ; NI-CHUNG LEE ; Tsai F.-J.; Chao M.-C.; WUH-LIANG HWU Molecular Genetics and Metabolism22
2162010Clinical aspects and genetic analysis of Taiwanese patients with Wiskott-Aldrich syndrome protein mutation: The first identification of X-linked thrombocytopenia in the Chinese with novel mutationsLee W.-I.; Huang J.-L.; Jaing T.-H.; Wu K.-H.; YIN-HSIU CHIEN ; Chang K.-W.Journal of Clinical Immunology1914
2172010Newborn screening for neuropathic lysosomal storage disordersWUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE Journal of Inherited Metabolic Disease2119
2182010Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometryDajnoki A.; Fekete G.; Keutzer J.; Orsini J.J.; De Jesus V.R.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Lukacs Z.; M?hl A.; Zhang X.K.; Bodamer O.Clinica Chimica Acta4741
2192010Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpointsNI-CHUNG LEE ; Chen M.; Ma G.-C.; Lee D.-J.; Wang T.-J.; Ke Y.-Y.; YIN-HSIU CHIEN ; WUH-LIANG HWU American Journal of Medical Genetics, Part A1615
2202009Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.YIN-HSIU CHIEN ; WUH-LIANG ​​HWU Human genetics30
2212009龐貝氏症:新生兒篩檢發現個案之突變分析及治療成果YIN-HSIU CHIEN 臺灣大學臨床醫學研究所學位論文 
2222009X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed MalesChen S.-T.; HUEY-LING CHEN ; YEN-HSUAN NI ; YIN-HSIU CHIEN ; YUNG-MING JENG ; MEI-HWEI CHANG ; WUH-LIANG HWU Pediatrics and Neonatology54
2232009Eye anomalies and neurological manifestations in patients with PAX6 mutations.YIN-HSIU CHIEN ; HSIANG-PO HUANG ; WUH-LIANG ​​HWU ; Chien Y.H.; Chang T.C.; NI-CHUNG LEE Molecular vision2619
2242009Pompe disease in infants: Improving the prognosis by newborn screening and early treatmentYIN-HSIU CHIEN ; NI-CHUNG LEE ; Thurberg B.L.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Huang A.-C.; MEI-HWAN WU ; PEI-HSIN HUANG ; Tsai F.-J.; Chen Y.-T.; WUH-LIANG HWU Pediatrics182160
2252009Glycogen Storage Disease Type Ib: The First Case in TaiwanHsiao H.-J.; HSIU-HAO CHANG ; WUH-LIANG HWU ; Lam C.-W.; NI-CHUNG LEE ; YIN-HSIU CHIEN Pediatrics and Neonatology43
2262009Caloric restriction in Alstr?m syndrome prevents hyperinsulinemiaNI-CHUNG LEE ; Marshall J.D.; Collin G.B.; Naggert J.K.; YIN-HSIU CHIEN ; Tsai W.-Y.; WUH-LIANG HWU American Journal of Medical Genetics, Part A1816
2272009Newborn screening for fabry disease in taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Chiang S.-C.; Dobrovolny R.; Huang A.-C.; Yeh H.-Y.; Chao M.-C.; Lin S.-J.; Kitagawa T.; Desnick R.J.; Hsu L.-W.Human Mutation287257
2282009Identification of novel mutations in the SLC25A15 Gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional studyTessa A.; Fiermonte G.; Dionisi-Vici C.; Paradies E.; Baumgartner M.R.; YIN-HSIU CHIEN ; Loguercio C.; De Baulny H.O.; Nassogne M.-C.; Schiff M.; Deodato F.; Parenti G.; Rutledge S.L.; Antonia Vilaseca M.; Melone M.A.B.; Scarano G.; Aldamiz-Echevarria L.; Besley G.; Walter J.; Martinez-Hernandez E.; Hernandez J.M.; Pierri C.L.; Palmieri F.; Santorelli F.M.Human Mutation5947
2292009Pseudogene-derived IKBKG gene mutations in incontinentia pigmentiNI-CHUNG LEE ; Huang C.H.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Chang Y.Y.; Chen C.H.; TSANG-MING KO Clinical Genetics76
2302009Newborn screening system based on adaptive feature selection and support vector machinesHsieh S.-H.; YIN-HSIU CHIEN ; Shen C.-P.; Chen W.-H.; Chen P.-H.; Hsieh S.-L.; Cheng P.-H.; Lai F.Proceedings of the 2009 9th IEEE International Conference on Bioinformatics and BioEngineering, BIBE 200920
2312009A multi model voting enhancement for newborn screening healthcare information systemHsieh, S.-H.; Cheng, P.-H.; Hsieh, S.-L.; Chen, P.-H.; Weng, Y.-C.; YIN-HSIU CHIEN ; Wang, Z.; FEI-PEI LAI Studies in Computational Intelligence00
2322009Cystathionine γ-lyase: Clinical, metabolic, genetic, and structural studiesKraus J.P.; Ha?ek J.; Ko?ich V.; Collard R.; Venezia S.; Jano??kov? B.; Wang J.; Stabler S.P.; Allen R.H.; Jakobs C.; Finn C.T.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Hegele R.A.; Mudd S.H.Molecular Genetics and Metabolism5240
2332009Schizencephaly in LEOPARD SyndromeLiang J.-S.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Yeh S.-J.; STEVEN SHINN-FORNG PENG Pediatric Neurology44
2342009Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe DiseaseChen L.-R.; CHUN-AN CHEN ; SHUENN-NAN CHIU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; MING-TAI LIN ; WUH-LIANG HWU ; JOU-KOU WANG ; MEI-HWAN WU Journal of Pediatrics5442
2352008Web Services based newborn screening system with Support Vector MachinesHsieh S.-H.; Hsieh S.-L.; Weng Y.-C.; YIN-HSIU CHIEN ; Wang Z.; Chen P.-H.; Chang H.-Y.; FEI-PEI LAI ; WUH-LIANG HWU 5th International Conference on Information Technology and Applications, ICITA 20081
2362008Changes in incidence and sex ratio of glucose-6-phosphate dehydrogenase deficiency by population drift in TaiwanYIN-HSIU CHIEN ; NI-CHUNG LEE ; Wu S.-T.; Liou J.-J.; Chen H.-C.; WUH-LIANG HWU Southeast Asian Journal of Tropical Medicine and Public Health80
2372008Screening for pompe disease and fabry diseaseWUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE Clinical Therapeutics11
2382008Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe diseaseHuang P.-K.; Wang C.-C.; SHUENN-NAN CHIU ; EN-TING WU ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; JOU-KOU WANG ; MEI-HWAN WU Paediatric Anaesthesia56
2392008A promoter sequence variant of ZNF750 is linked with familial psoriasisYang C.-F.; WUH-LIANG HWU ; Yang L.-C.; Chung W.-H.; YIN-HSIU CHIEN ; Hung C.-F.; Chen H.-C.; Tsai P.-J.; Fann C.S.J.; Liao F.; Chen Y.-T.Journal of Investigative Dermatology2926
2402008Brain Damage by Mild Metabolic Derangements in Methylmalonic AcidemiaNI-CHUNG LEE ; YIN-HSIU CHIEN ; STEVEN SHINN-FORNG PENG ; Huang A.-C.; Liu T.-T.; Wu A.S.-H.; Chen L.-C.; Hsu L.-W.; Tseng S.-C.; WUH-LIANG HWU Pediatric Neurology2220
2412008Myopathy in Gaucher diseaseLI-KAI TSAI ; YIN-HSIU CHIEN ; Yang C.-C.; WUH-LIANG HWU Journal of Inherited Metabolic Disease30
2422008Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature reviewTING-YU YEN ; WUH-LIANG HWU ; YIN-HSIU CHIEN ; MEI-HWAN WU ; MING-TAI LIN ; Tsao L.-Y.; Hsieh W.-S.; NI-CHUNG LEE European Journal of Pediatrics4939
2432008A newborn screening system based on Service-Oriented Architecture embedded Support Vector MachineHsieh, S.-H.; Hsieh, S.-L.; YIN-HSIU CHIEN ; Wang, Z.; Weng, Y.-C.; FEI-PEI LAI Proceedings of the 4th IEEE International Symposium on Service-Oriented System Engineering, SOSE 200810
2442008Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiencyChen H.-W.; HUEY-LING CHEN ; YEN-HSUAN NI ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Huang Y.-T.; Chiu P.-C.; MEI-HWEI CHANG Journal of Pediatric Gastroenterology and Nutrition2110
2452008Transcatheter Closure of Portal-Systemic Shunt Combining Congenital Double Extrahepatic Inferior Vena Cava with Vascular PlugSHUENN-NAN CHIU ; YIN-HSIU CHIEN ; MEI-HWAN WU ; JOU-KOU WANG ; SHYH-JYE CHEN Journal of Pediatrics1210
2462008Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening programYIN-HSIU CHIEN ; Chiang S.-C.; Zhang X.K.; Keutzer J.; NI-CHUNG LEE ; Huang A.-C.; CHUN-AN CHEN ; MEI-HWAN WU ; PEI-HSIN HUANG ; Tsai F.-J.; Chen Y.-T.; WUH-LIANG HWU Pediatrics207178
2472008Early detection of glutaric aciduria type I by newborn screening in TaiwanHsieh C.-T.; WUH-LIANG HWU ; Huang Y.-T.; Huang A.-C.; Wang S.-F.; Hu M.-H.; YIN-HSIU CHIEN Journal of the Formosan Medical Association2416
2482008Detection and imaging of non-contractile inclusions and sarcomeric anomalies in skeletal muscle by second harmonic generation combined with two-photon excited fluorescenceRalston E.; Swaim B.; Czapiga M.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Pittis M.G.; Bembi B.; Schwartz O.; Plotz P.; Raben N.Journal of Structural Biology4746
2492007Clinical aspects and molecular analysis of Chinese patients with Wiskott-Aldrich syndrome in TaiwanLee W.-I.; Yang C.-Y.; Jaing T.-H.; Huang J.-L.; YIN-HSIU CHIEN ; Chang K.-W.International Archives of Allergy and Immunology89
2502007The genetics of atopic dermatitisYIN-HSIU CHIEN ; WUH-LIANG HWU ; BOR-LUEN CHIANG Clinical Reviews in Allergy and Immunology2925
2512007Deconstructing pompe disease by analyzing single muscle fibers: To see a world in a grain of sand...Raben N.; Takikita S.; Pittis M.G.; Bembi B.; Marie S.K.N.; Roberts A.; Page L.; Kishnani P.S.; Schoser B.G.H.; YIN-HSIU CHIEN ; Ralston E.; Nagaraju K.; Plotz P.H.Autophagy9998
2522007Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.YIN-HSIU CHIEN ; NI-CHUNG LEE ; LI-KAI TSAI ; Huang A.C.; STEVEN SHINN-FORNG PENG ; SHYH-JYE CHEN ; WUH-LIANG HWU Journal of inherited metabolic disease4336
2532007The design and implementation of a next generation information system for newborn screeningTu, C.-M.; Tang, M.-Y.; Chang, H.-Y.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; FEI-PEI LAI HEALTHCOM 2007: Ubiquitous Health in Aging Societies - 2007 9th International Conference on e-Health Networking, Application and Services60
2542007Identification and management of cardiac perforation from a double lumen catheter in an infant [6]CHING-CHIA WANG ; Chen Y.-W.; EN-TING WU ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Ko W.-J.; SHU-CHIEN HUANG Paediatric Anaesthesia32
2552007Slipped capital femoral epiphysis as a complication of growth hormone therapy.Wang S.-Y.; YI-CHING TUNG ; WEN-YU TSAI ; YIN-HSIU CHIEN ; Lee J.-S.; WUH-LIANG HWU Journal of the Formosan Medical Association107
2562007Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency.WUH-LIANG HWU ; YIN-HSIU CHIEN ; Tang N.L.; Law L.K.; Lin C.Y.; NI-CHUNG LEE Journal of inherited metabolic disease1313
2572007A review of treatment of pompe disease in infantsYIN-HSIU CHIEN ; WUH-LIANG ​​HWU Biologics: Targets and Therapy13
2582007Recombinant human acid α-glucosidase: Major clinical benefits in infantile-onset Pompe diseaseKishnani P.S.; Corzo D.; Nicolino M.; Byrne B.; Mandel H.; WUH-LIANG HWU ; Leslie N.; Levine J.; Spencer C.; McDonald M.; Li J.; Dumontier J.; Halberthal M.; YIN-HSIU CHIEN ; Hopkin R.; Vijayaraghavan S.; Gruskin D.; Bartholomew D.; Van Der Ploeg A.; Clancy J.P.; Parini R.; Morin G.; Beck M.; De La Gastine G.S.; Jokic M.; Thurberg B.; Richards S.; Bali D.; Davison M.; Worden M.A.; Chen Y.T.; Wraith J.E.Neurology661583
2592006Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiencyNI-CHUNG LEE ; YIN-HSIU CHIEN ; Kobayashi K.; Saheki T.; HUEY-LING CHEN ; Chiu P.-C.; YEN-HSUAN NI ; MEI-HWEI CHANG ; WUH-LIANG HWU Journal of Inherited Metabolic Disease2815
2602006Identification of variations in the human phosphoinositide 3-kinase p110δ gene in children with primary B-cell immunodeficiency of unknown aetiologySHIANN-TANG JOU ; YIN-HSIU CHIEN ; YAO-HSU YANG ; Wang T.-C.; Shyur S.-D.; Chou C.-C.; Chang M.-L.; Lin D.-T.; Lin K.-H.; BOR-LUEN CHIANG International Journal of Immunogenetics4341
2612006De novo mutation in the BTK of atypical X-linked agammaglobulinemia in a patient with recurrent pyodermaLin M.-T.; YIN-HSIU CHIEN ; Shyur S.-D.; Huang L.-H.; Chiang Y.-C.; Wen D.-C.; Liang P.-H.; Yang H.-C.Annals of Allergy, Asthma and Immunology149
2622006Brain development in infantile-onset pompe disease treated by enzyme replacement therapyYIN-HSIU CHIEN ; NI-CHUNG LEE ; STEVEN SHINN-FORNG PENG ; WUH-LIANG HWU Pediatric Research7362
2632006Tandem mass neonatal screening in Taiwan - Report from one centerHSIANG-PO HUANG ; Chu K.-L.; YIN-HSIU CHIEN ; Wei M.-L.; Wu S.-T.; Wang S.-F.; WUH-LIANG HWU Journal of the Formosan Medical Association3325
2642005Wiskott-Aldrich syndrome complicated by an atypical lymphoproliferative disorder: A case reportMa Y.-C.; Shyur S.-D.; Ho T.-Y.; Huang L.-H.; Wu J.-Y.; Liang D.-C.; YIN-HSIU CHIEN Journal of Microbiology, Immunology and Infection40
2652005Plasma chitotriosidase activity and malaria (multiple letters)YIN-HSIU CHIEN ; JEN-HAU CHEN ; WUH-LIANG HWU ; Musumeci S.Clinica Chimica Acta1518
2662005KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3Lin L.-K.; YIN-HSIU CHIEN ; Wu J.-Y.; Wang A.-H.; Chiang S.-C.; WUH-LIANG HWU Molecular Vision2117
2672005Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolismHSIANG-PO HUANG ; YIN-HSIU CHIEN ; LI-MIN HUANG ; YEN-HSUAN NI ; MEI-HWEI CHANG ; MING-CHIH HO ; PO-HUANG LEE ; WUH-LIANG ​​HWU Journal of the Formosan Medical Association1211
2682005Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformationCHUN-AN CHEN ; Tang N.L.S.; YIN-HSIU CHIEN ; Zhang W.-M.; JOU-KOU WANG ; WUH-LIANG HWU BMC Medical Genetics33
2692005Spectrum of hypermethioninemia in neonatal screeningYIN-HSIU CHIEN ; Chiang S.-C.; Huang A.; WUH-LIANG HWU Early Human Development3426
2702004A step-wise diagnosis of fragile X syndrome in TaiwanHuang Y.-T.; Chiang S.-C.; Tzeng C.-C.; Liu C.-H.; YIN-HSIU CHIEN ; WUH-LIANG HWU Acta Paediatrica Taiwanica70
2712004Carbohydrate deficient glycoprotein syndrome type IAChu K.-L.; YIN-HSIU CHIEN ; Tsai C.-E.; Freeze H.H.; Eklund E.; WUH-LIANG HWU Journal of the Formosan Medical Association32
2722004Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysisSu Y.-N.; CHIEN-NAN LEE ; Chien S.-C.; Hung C.-C.; YIN-HSIU CHIEN ; CHI-AN CHEN Journal of Human Genetics99
2732004Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphanYIN-HSIU CHIEN ; Hsu C.-C.; Huang A.; Chou S.-P.; FRANK LEIGH LU ; WANG-TSO LEE ; WUH-LIANG HWU Journal of Child Neurology3730
2742004Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome.YIN-HSIU CHIEN ; WUH-LIANG ​​HWU ; Ariga T.Human genetics00
2752004Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation.YIN-HSIU CHIEN ; Chiang S.C.; Huang A.; Chou S.P.; Tseng S.S.; Huang Y.T.; WUH-LIANG HWU Human mutation330
2762004Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessmentSTEVEN SHINN-FORNG PENG ; WEN-YIH TSENG ; YIN-HSIU CHIEN ; WUH-LIANG ​​HWU ; HON-MAN LIU American Journal of Neuroradiology2622
2772004Molecular diagnosis of Wiskott-Aldrich syndrome in TaiwanYIN-HSIU CHIEN ; WUH-LIANG ​​HWU ; Ariga T.; Chang K.-W.; YAO-HSU YANG ; KAI-HSIN LIN ; BOR-LUEN CHIANG Journal of Microbiology, Immunology and Infection70
2782004Partial trisomy 1 with congenital hydrocephalus and hypogammaglobulinemia: Report of one caseWUH-LIANG HWU ; Kuo P.-L.; Hung Y.-T.; YIN-HSIU CHIEN ; Chu S.-Y.Acta Paediatrica Taiwanica30
2792004Phenylalanine hydroxylase deficiency: Intelligence of patients after early dietary treatmentYIN-HSIU CHIEN ; Chiang S.-C.; Huang A.; Lin J.-M.; YEN-NAN CHIU ; Chou S.-P.; Wang T.-R.; WUH-LIANG HWU Acta Paediatrica Taiwanica40
2802004Distal Arthrogryposis in Two Sisters Born to Different Fathers [4]WUH-LIANG HWU ; YIN-HSIU CHIEN ; Hsu C.-C.American Journal of Medical Genetics44
2812004Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome.YIN-HSIU CHIEN ; WUH-LIANG ​​HWU ; Ariga T.Human genetics10
2822004Terminal deletion of chromosome 2q associated with Graves' disease: A case report and literature reviewChu S.-Y.; WEN-YU TSAI ; YIN-HSIU CHIEN ; Fang J.-S.; Ku C.-W.; Chang P.-Y.; WUH-LIANG HWU Tzu Chi Medical Journal1
2832003Phenotype and genotype analyses of ornithine transcarbamylase deficiency in TaiwaneseHuang Y.-T.; YIN-HSIU CHIEN ; Yeh H.-Y.; Lin S.-J.; FRANK LEIGH LU ; Chou S.-P.; Lin J.-M.; Chiang S.-H.; WUH-LIANG HWU Journal of the Formosan Medical Association21
2842003Association between levels of TNF-α and TNF-α promoter - 308 A/A polymorphism in children with kawasaki diseaseYIN-HSIU CHIEN ; Chang K.-W.; YAO-HSU YANG ; MENG-YAO LU ; YU-TSAN LIN ; BOR-LUEN CHIANG Journal of the Formosan Medical Association3226
2852003Gene symbol: Btk: Disease: Bruton agammaglobulinemiaYIN-HSIU CHIEN Human Genetics00
2862003Living-related liver transplantation for methylmalonic acidemia: Report of one caseHsui J.-Y.; YIN-HSIU CHIEN ; Chu S.-Y.; FRANK LEIGH LU ; HUEY-LING CHEN ; Ho M.-J.; PO-HUANG LEE ; WUH-LIANG HWU Acta Paediatrica Taiwanica240
2872003Gene symbol: OTC: Disease: Ornithine carbamoyltransferase deficiencyWUH-LIANG HWU ; Huang Y.-T.; YIN-HSIU CHIEN ; Yeh H.-Y.; Lul F.; Chou S.-P.; Lin J.-M.; Chiang S.-C.Human Genetics30
2882003Common variable immunodeficiency with hypoglycemia, Kikuchi lymphadenitis, and hemiparesis in two siblingsYIN-HSIU CHIEN ; YAO-HSU YANG ; WUH-LIANG ​​HWU ; Chou C.-C.; BOR-LUEN CHIANG Journal of Microbiology, Immunology and Infection00
2892003Adrenoleukodystrophy initially diagnosed as idiopathic Addison's disease in two patients: The importance of early testingWUH-LIANG HWU ; YIN-HSIU CHIEN ; Liang J.-S.; WANG-TSO LEE ; Wang P.-J.; WEN-YU TSAI Journal of the Formosan Medical Association74
2902003肝醣儲積症Ia型的診斷與治療YIN-HSIU CHIEN Acta Paediatrica Taiwanica 
2912002Rehospitalization of extremely-low-birth-weight infants in first 2 years of lifeChien, Yin-Hsiu ; Tsao, Po-Nien ; Chou, Hung-Chieh ; Tang, Jen-Ruey; Tsou, Kuo-InnEarly Human Development 66 (2002),33– 40 
2922002Screening of mitochondrial DNA mutations in subjects with non-syndromic familial hearing impairment in TaiwanChu S.-Y.; Chiang S.-C.; YIN-HSIU CHIEN ; WUH-LIANG HWU Acta Paediatrica Taiwanica70
2932002Pamidronate treatment of severe osteogenesis imperfecta in a newborn infantYIN-HSIU CHIEN ; Chu S.-Y.; Hsu C.-C.; WUH-LIANG HWU Journal of Inherited Metabolic Disease1514
2942002Enzyme replacement therapy with imiglucerase in Taiwanese patients with type I Gaucher diseaseHsu C.-C.; YIN-HSIU CHIEN ; Lai M.-Y.; WUH-LIANG HWU Journal of the Formosan Medical Association76
2952002An infant with heart murmur and dysmorphic faceYIN-HSIU CHIEN ; Kuo P.-L.; WUH-LIANG HWU Acta Paediatrica Taiwanica10
2962002Cranial MR spectroscopy of tetrahydrobiopterin deficiencyYIN-HSIU CHIEN ; STEVEN SHINN-FORNG PENG ; Wang T.-R.; WUH-LIANG ​​HWU American Journal of Neuroradiology119
2972002Cockayne syndrome in a familyYIN-HSIU CHIEN ; HUNG-CHIEH CHOU ; WUH-LIANG HWU Acta Paediatrica Taiwanica30
2982002Rehospitalization of extremely-low-birth-weight infants in first 2 years of lifeYIN-HSIU CHIEN ; PO-NIEN TSAO ; HUNG-CHIEH CHOU ; Tang J.-R.; Tsou K.-I.Early Human Development4233
2992002DiGeorge sequence with hypogammaglobulinemia: A case reportYIN-HSIU CHIEN ; YAO-HSU YANG ; Chu S.-Y.; WUH-LIANG ​​HWU ; Kuo P.-L.; BOR-LUEN CHIANG Journal of Microbiology, Immunology and Infection60
3002002Neonatal screening for congenital adrenal hyperplasia in taiwan: A pilot studyChu S.-Y.; WEN-YU TSAI ; Chen L.-H.; Wei M.-L.; YIN-HSIU CHIEN ; WUH-LIANG HWU Journal of the Formosan Medical Association1814
3012001Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutationsYIN-HSIU CHIEN ; Chiang S.-C.; Huang A.; Lin J.-M.; YEN-NAN CHIU ; Chou S.-P.; Chu S.-Y.; Wang T.-R.; WUH-LIANG HWU Journal of Inherited Metabolic Disease3220
3022000Nephrotic syndrome in a bone marrow transplant recipient without chronic graft-versus-host diseaseYIN-HSIU CHIEN ; KAI-HSIN LIN ; Lee T.-Y.; MENG-YAO LU ; YONG-KWEI TSAU Journal of the Formosan Medical Association2824
3032000Congenital intracranial teratomaYIN-HSIU CHIEN ; PO-NIEN TSAO ; WANG-TSO LEE ; STEVEN SHINN-FORNG PENG ; Tsou Yau K.-I.Pediatric Neurology4435
3041999Typhoid fever presenting as infection-associated hemophagocytic syndrome: Report of one caseYIN-HSIU CHIEN ; PING-ING LEE ; LI-MIN HUANG ; CHIN-YUN LEE ; DONG-TSAMN LIN ; KAI-HSIN LIN Acta Paediatrica Taiwanica100