Results 1-112 of 112 (Search time: 0.006 seconds).

Issue DateTitleAuthor(s)TypescopusWOSFulltext/Archive link
12019Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith-Wiedemann spectrumCHENG-TING LEE ; YI-CHING TUNG ; WUH-LIANG ??HWU ; JIN-CHUNG SHIH; WEN-HSI LIN ; MU-ZON WU ; KUAN-TING KUO ; YUNG-LI YANG ; HUEY-LING CHEN ; Chen, Ming; Su, Yi-Ning; Jong, Yiin-Jeng; SHIH-YAO LIU ; WEN-YU TSAI ; NI-CHUNG LEE journal article00
22019REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sampleNI-CHUNG LEE ; Hsu, Wei-Chung; Chang, Lih-Maan; YI-CHEN CHEN; Huang, Po-Tsang; Chien, Chun-Chin; YIN-HSIU CHIEN ; CHI-LING CHEN ; WUH-LIANG ??HWU ; PEI-LIN LEE journal article00
32019Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiencyTseng, Chih Hsien; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Hsu, Yung Chin; Peng, Shinn Forng; WEN-YIH ISAAC TSENG ; WUH-LIANG ​​HWU journal article20
42019Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groupsChu, Tzu-Hung; YIN-HSIU CHIEN ; Lin, Hsiang-Yu; Liao, Hsuan-Chieh; Ho, Huey-Jane; Lai, Chih-Jou; Chiang, Chuan-Chi; Lin, Niang-Cheng; Yang, Chia-Feng; WUH-LIANG ??HWU ; NI-CHUNG LEE ; Lin, Shuan-Pei; Liu, Chin-Su; REY-HENG HU; MING-CHIH HO; Niu, Dau-Mingjournal article31
52017A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease MiceNI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU journal article611
62017Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn ScreeningWU-SHIUN HSIEH ; NI-CHUNG LEE ; WEN-CHIN WENG ; YIN-HSIU CHIEN ; WUH-LIANG HWU journal article2014
72017Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe diseaseNI-CHUNG LEE ; JENG-YI SHIEH ; LU LU ; YIN-HSIU CHIEN ; WUH-LIANG HWU journal article35
82017Russell�VSilver syndrome presenting with ambiguous genitaliaNI-CHUNG LEE ; YIN-HSIU CHIEN ; WEN-YU TSAI journal article11
92017A Review of Biomarkers for Alzheimer��s Disease in Down SyndromeNI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU journal article35
102017Blood beta-amyloid and tau in down syndrome: A comparison with Alzheimer's diseaseNI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU journal article1717
112017Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe diseaseNI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU journal article32
122017Down syndrome in diverse populationsNI-CHUNG LEE journal article1725
132017Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trialNI-CHUNG LEE ; WUH-LIANG HWU journal article1313
142017Reply to: ��Peculiarities of progressive external ophthalmoplegia due to single mtDNA deletions��NI-CHUNG LEE ; TZU-HSUN TSAI journal article00
152017SHOX deficiency in short Taiwanese children: A single-center experienceNI-CHUNG LEE ; YI-CHING TUNG ; SHIH-YAO LIU ; CHENG-TING LEE ; WUH-LIANG HWU ; WEN-YU TSAI journal article11
162017A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: A case study and literature reviewNI-CHUNG LEE ; SHU-HUA YANG journal article23
172017Gene therapy with modified U1 small nuclear RNANI-CHUNG LEE ; WUH-LIANG HWU journal article10
182016Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatographyNI-CHUNG LEE ; YIN-HSIU CHIEN journal article11
192016Integrated care for Down syndromeLee, Ni-Chung ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Chien, Yin-Hsiu ; WUH-LIANG HWU ; Hwu, Wuh-Liang journal article11
202016Advances in newborn screening for Pompe disease and resulting clinical outcomesChien, Yin-Hsiu ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Hwu, Wuh-Liang ; WUH-LIANG HWU ; Lee, Ni-Chung journal article00
212016Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene AymeNI-CHUNG LEE ; Peng, Steven Shinn-Forng ; Hwu, Wuh-Liang ; STEVEN SHINN-FORNG PENG ; Lee, Ni-Chung ; YIN-HSIU CHIEN ; Tsai, Fuu-Jen; WUH-LIANG HWU ; Tsai, Wen-Hui; Chien, Yin-Hsiu journal article510
222016Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase geneLee, Ni-Chung ; NI-CHUNG LEE ; Lee, Yu-May; WUH-LIANG HWU ; Chen, Pin-Wen; Byrne, Barry J.; Hwu, Wuh-Liang journal article108
2320163-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiencyChien, Yin-Hsiu ; WU-SHIUN HSIEH ; NI-CHUNG LEE ; Chen, Pin-Wen; Lee, Ni-Chung ; YIN-HSIU CHIEN ; Hsieh, Wu-Shiun ; WUH-LIANG HWU ; Chiu, Pao-Chin; Hwu, Wuh-Liang ; Tsai, Fuu-Jen; Lin, Shuan-Pei; Chu, Shao-Yin; Jong, Yuh-Jyh; Chao, Mei-Chynjournal article1110
242016Histopathological and genetic analysis of extraocular muscle in chronic progressive external ophthalmoplegiaNI-CHUNG LEE ; Hsiao, Chia-Chieh; Fan, Chihhao ; Chen, Yen-chuan; TZU-HSUN TSAI ; Lee, Ni-Chung ; Huang, Pei-Hsin ; Ma, Hwong-wen ; PEI-HSIN HUANG ; Wang, Gen-shuh ; Tsai, Tzu-Hsun journal article44
252015Long-Term Prognosis of Patients with Infantile-Onset Pompe Disease Diagnosed by Newborn Screening and Treated since BirthCHUN-AN CHEN ; Chien, Yin-Hsiu ; Lee, Ni-Chung ; NI-CHUNG LEE ; Chen, Chun-An ; JENG-YI SHIEH ; TZU-HSUN TSAI ; Tsai, Fuu-Jen; YIN-HSIU CHIEN ; Tsai, Wen-Hui; Shieh, Jeng-Yi ; WUH-LIANG HWU ; Huang, Hsiang-Ju; Hsu, Wei-Chung ; Tsai, Tzu-Hsun ; Hwu, Wuh-Liang journal article4647
262015Congenital Malformations in Newborns—A Challenge Unmet for DecadesNI-CHUNG LEE ; Lee, Ni-Chung ; Chien, Yin-Hsiu ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Hwu, Wuh-Liang journal article11
272015The role of brain natriuretic peptide in predicting renal outcome and fluid management in critically ill patientsHsiao, Chia-Chieh; Chou, Yu-Hsiang; YUNG-MING CHEN ; Chen, Yen-Fu; Lee, Ni-Chung ; Huang, Pei-Hsin ; Pan, Szu-Yu; Huang, Tao-Min; Tsai, Tzu-Hsun ; Yang, Feng-Jung; 蔡紫薰 ; Shen, Wen-Ching; 李妮鍾 ; Chen, Yung-Ming; 黃佩欣 journal article87
282015Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutationHsiue, Han-Chung; NI-CHUNG LEE ; Hsiue, Han-Chung; Lee, Ni-Chung ; PI-CHUAN FAN ; Lee, Ni-Chung; Tsai, Hung-Bin ; WANG-TSO LEE ; Tsai, Hung-Bin; HUNG-BIN TSAI ; Yang, Chih-Chao ; Yang, Chih-Chao; Chai, Huei-Ming; Wu, Chao-Szu; PEI-LIN LEE ; Wu, Chao-Szu; Lee, Wang-Tso; Lee, Wang-Tso ; WEN-CHIN WENG ; YIN-HSIU CHIEN ; Weng, Wen-Chin ; Weng, Wen-Chin; Fan, Pi-Chuan ; WUH-LIANG HWU ; Fan, Pi-Chuan; Chien, Yin-Hsiu; Chien, Yin-Hsiu ; Hwu, Wuh-Liang; Hwu, Wuh-Liang ; Hung, Kun-Long; Hung, Kun-Long; Huang, Chao-Ching; Huang, Chao-Ching; Chen, Chih-Hung; Lin, Shio-Jean; Chu, Shao-Yin; Chu, Shao-Yin; Wang, Tzu-Jou; Wang, Tzu-Jou; Lu, Chien-Jung; Lu, Chien-Jung; Lee, Pei-Lin; Lee, Pei-Lin journal article11
292015Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter DeficiencyNI-CHUNG LEE ; Lee, Ni-Chung ; Ho, Bing-Ching; KAI-YUAN TZEN ; Muramatsu, Shin-ichi; Yu, I-Shing; Chien, Yin-Hsiu ; YIN-HSIU CHIEN ; Lu, Li-Fan; Rudensky, Alexander; WUH-LIANG HWU ; Liu, Wen-Shin; Wang, Wei-Hua; Chen, Hsuan-Yu; Cheng, Chia-Hao; Tsai, Chang-Wu; Chang, Yih-Leong; Hu, Meng-Kai; Wu, Chen-Tu; Chen, Pin-Wen; Chang, Luan-Yin ; Tzen, Kai-Yuan ; Chang, Luan-Yin; Shih, Shin-Ru; Byrne, Barry J.; Hwu, Wuh-Liang ; Lin, Shu-Wha; Lee, Chun-Nan; Yang, Pan-Chyr; Yu, Sung-Liang; 何炳慶; 吳振都; 俞松良; 李君男; 張逸良; 楊泮池; 林淑華; 張鑾英; 蔡倉吾journal article1412
302015Moyamoya disease in two patients with Noonan-like syndrome with loose anagen hairNI-CHUNG LEE ; Lo, Fu-Sung; Wang, Chao-Jan; Wong, Mun-Ching; Lee, Ni-Chung journal article1110
312014Prominent vacuolation of the eyelid levator muscle in a child with infantile-onset Pompe disease treated since 2.5months of ageHwu, Wuh-Liang ; YIN-HSIU CHIEN ; Chien, Yin-Hsiu ; Lee, Ni-Chung journal article00
322014Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vectorNI-CHUNG LEE ; Lee, Ni-Chung ; Lee, Ni-Chung ; Chien, Yin-Hsiu ; Chien, Yin-Hsiu ; KAI-YUAN TZEN ; Hu, Min-Hsiu; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Liu, Wen-Shin; Chen, Pin-Wen; Chen, Pin-Wen; Wang, Wei-Hua; Tzen, Kai-Yuan ; Byrne, Barry J.; Hwu, Wuh-Liang journal article1010
332014Diagnosis of aromatic l-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spotsNI-CHUNG LEE ; Chen, Pin-Wen; YIN-HSIU CHIEN ; Lee, Ni-Chung ; WUH-LIANG HWU ; Chien, Yin-Hsiu ; Wu, Jia-Yun; Wang, Ping-Chun; Hwu, Wuh-Liang journal article1312
342014Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe diseaseNI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU journal article44
352014Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolismTsai, I-Jung ; NI-CHUNG LEE ; Hwu, Wuh-Liang ; YONG-KWEI TSAU ; Huang, Shu-Chien ; I-JUNG TSAI ; YIN-HSIU CHIEN ; Lee, Ni-Chung ; SHU-CHIEN HUANG ; Wu, En-Ting ; Chien, Yin-Hsiu ; WUH-LIANG HWU ; Tsau, Yong-Kwei ; EN-TING WU journal article1010
362014Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfectaNI-CHUNG LEE ; Lin, Chia-Hsuan; YI-CHING TUNG ; Chien, Yin-Hsiu ; CHENG-TING LEE ; Peng, Shinn-Forng; YIN-HSIU CHIEN ; Tsai, Wen-Yu ; Tung, Yi-Ching ; WUH-LIANG HWU ; Lee, Cheng-Ting ; WEN-YU TSAI ; Chien, Chun-Ching; Hwu, Wuh-Liang ; Lee, Ni-Chung ; 彭信逢 journal article22
372014Application of mass spectrometry in newborn screening: About both small molecular diseases and lysosomal storage diseasesNI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU book50
382014Long-term outcome for Down syndrome patients with hematopoietic disordersNI-CHUNG LEE ; Li, Meng-Ju ; Lee, Ni-Chung ; Chang, Yeun-Chung ; SHIANN-TARNG JOU ; HSIU-HAO CHANG ; Yang, Yung-Li ; Yen, Hsiu-Ju; YUNG-LI YANG ; Chang, Hsiu-Hao ; MENG-JU LI ; Chien, Yin-Hsiu ; KAI-HSIN LIN ; YIN-HSIU CHIEN ; Lu, Meng-Yao ; Jou, Shiann-Tarng ; MENG-YAO LU ; Lin, Kai-Hsin ; WUH-LIANG HWU ; Hwu, Wuh-Liang ; Lin, Dong-Tsamn journal article11
392014Tet oncogene family member 2 gene alterations in childhood acute myeloid leukemiaNI-CHUNG LEE ; Li, Meng-Ju ; Yang, Yung-Li ; SHIANN-TARNG JOU ; Lee, Ni-Chung ; HSIU-HAO CHANG ; YUNG-LI YANG ; Jou, Shiann-Tarng ; Chen, Chia-Hsiang; Lu, Meng-Yao ; MENG-JU LI ; KAI-HSIN LIN ; Chang, Hsiu-Hao ; Lin, Kai-Hsin ; MENG-YAO LU ; Peng, Ching-Tien; Lin, Dong-Tsamn journal article66
402014Outcome of early-treated type III Gaucher disease patientsLee, Ni-Chung ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Chien, Yin-Hsiu ; Wong, Siew-Lee; WUH-LIANG HWU ; Chang, An-Chen; CHIA-TUNG SHUN ; Sheen, Jiunn-Ming; Tsai, Fuu-Jen; Peng, Shinn-Forng; Leung, Joseph Hang; Chao, Mei-Chyn; Shun, Chia-Tung ; Hwu, Wuh-Liang ; 彭信逢 journal article1110
412013Long-term follow-up results in patients with classic infantile Pompe disease receiving enzyme therapy since newbornChien, Yin-Hsiu ; YIN-HSIU CHIEN ; Hwu, Wuh-Liang ; Lee, Ni-Chung ; Chen, Chun-An ; Tsai, Fuu-Jen; Tsai, Wen-Hui; Huang, Hsiang-Ju; Hsu, Wei-Chung ; Tsai, Tzu-Hsun ; Shieh, Jeng-Yi journal article00
422013Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type CNI-CHUNG LEE ; Chien, Y. H.; LI-KAI TSAI ; Peng, S. F.; YIN-HSIU CHIEN ; Yang, C. C.; Lee, N. C.; WUH-LIANG HWU ; Tsai, L. K.; Chih-Chao Yang ; Huang, A. C.; Su, S. C.; Tseng, C. C.; Hwu, W. L.; 彭信逢 journal article2627
432013Regulation of the dopaminergic system in a murine model of aromatic l-amino acid decarboxylase deficiencyNI-CHUNG LEE ; Lee, Ni-Chung ; Shieh, Yih-Dar; KAI-YUAN TZEN ; YIN-HSIU CHIEN ; Chien, Yin-Hsiu ; Tzen, Kai-Yuan ; WUH-LIANG HWU ; Yu, I-Shing; Chen, Pin-Wen; Hu, Min-Hsiu; Hu, Meng-kai; Muramatsu, Shin-ichi; Ichinose, Hiroshi; Hwu, Wuh-Liang journal article1918
442013Lung toxicity of hydroxypropyl-β-cyclodextrin infusionNI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU journal article1715
452013Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype CorrelationNI-CHUNG LEE ; Chen, Yi-Chen; YIN-HSIU CHIEN ; Chien, Yin-Hsiu ; WUH-LIANG HWU ; Chen, Pin-Wen; Tang, Nelson Leung-Sang; Chiu, Pao-Chin; Hwu, Wuh-Liang ; Lee, Ni-Chung journal article66
462013Pompe disease: Early diagnosis and early treatment make a differenceNI-CHUNG LEE ; Chien, Yin-Hsiu ; YIN-HSIU CHIEN ; Hwu, Wuh-Liang ; Lee, Ni-Chung ; WUH-LIANG HWU journal article6655
472013AADC Deficiency: Occurring in Humans; Modeled in Rodents; Treated in PatientsNI-CHUNG LEE ; KAI-YUAN TZEN ; YIN-HSIU CHIEN ; WUH-LIANG HWU book00
482013Mitochondrial depletion causes neonatal-onset leigh syndrome, myopathy, and renal tubulopathyNI-CHUNG LEE journal article44
492013Serial cytokine expressions in infants with incontinentia pigmentiNI-CHUNG LEE journal article44
502013Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous originNI-CHUNG LEE ; Wang, Jing; YIN-HSIU CHIEN ; Cui, Hong; WUH-LIANG HWU ; Lee, Ni-Chung ; Hwu, Wuh-Liang ; Chien, Yin-Hsiu ; Craigen, William J.; Wong, Lee-Jun; Zhang, Victor Weijournal article4228
512013Promising outcomes in glutaric aciduria type i patients detected by newborn screeningNI-CHUNG LEE ; Lee, Chee-Seng; YIN-HSIU CHIEN ; Chien, Yin-Hsiu ; WUH-LIANG HWU ; Peng, Shinn-Forng; Cheng, Pin-Wen; Chang, Lih-Maan; Huang, Ai-Chu; Hwu, Wuh-Liang ; Lee, Ni-Chung ; 彭信逢 journal article2316
522013Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular testsNI-CHUNG LEE ; Wang, Li-Yun; Chen, Nien-I; YIN-HSIU CHIEN ; Chen, Pin-Wen; WUH-LIANG HWU ; Chiang, Shu-Chuan; Hwu, Wuh-Liang ; Lee, Ni-Chung ; Chien, Yin-Hsiu journal article1010
532013Erratum: Enzyme replacement therapy for mucopolysaccharidosis VI - Experience in Taiwan (Journal of Inherited Metabolic Disease DOI: 10.1007/s20545-101-9212-5)NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU journal article01
542013AADC deficiency. Occurring in humans, modeled in rodents.NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU book100
552012An acidic oligopeptide displayed on AAV2 improves axial muscle tropism after systemic deliveryNI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU journal article20
562012Early pathologic changes and responses to treatment in patients with later-onset Pompe diseaseNI-CHUNG LEE ; Chien, Yin-Hsiu ; WANG-TSO LEE ; Lee, Ni-Chung ; YIN-HSIU CHIEN ; Huang, Pei-Hsin ; WUH-LIANG HWU ; Lee, Wang-Tso ; Thurberg, Beth L.; PEI-HSIN HUANG ; Hwu, Wuh-Liang journal article1613
572012Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutationWU-SHIUN HSIEH ; Li, Sing-Chung; Hwu, Wuh-Liang ; NI-CHUNG LEE ; Lin, Ju-Li; HUNG-CHIEH CHOU ; PO-NIEN TSAO ; Bali, Deeksha S.; Yang, Chen; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Chu, Shih-Ming; Chien, Yin-Hsiu ; CHIEN-YI CHEN ; Chou, Hung-Chieh ; Chen, Chien-Yi ; Hsieh, Wu-Shiun ; Tsao, Po-Nien ; Chen, Yuan-Tsong; Lee, Ni-Chung journal article87
582012Fabry 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.NI-CHUNG LEE journal article
592012Algorithm for Pompe disease newborn screening: Results from the Taiwan screening programNI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU journal article3636
602012Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasiaWU-SHIUN HSIEH ; Chang, Kai-Chi; Lin, Po-Han ; HUNG-CHIEH CHOU ; NI-CHUNG LEE ; Su, Yi-Ning; Peng, Steven Shinn-Forng ; PO-HAN LIN ; Lee, Ni-Chung ; STEVEN SHINN-FORNG PENG ; PO-NIEN TSAO ; Chou, Hung-Chieh ; Chen, Chien-Yi ; CHIEN-YI CHEN ; Hsieh, Wu-Shiun ; Tsao, Po-Nien journal article87
612012Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: Diagnosis and novel mutation revealed by exome sequencingNI-CHUNG LEE ; Kim, Jaeseung C.; YIN-HSIU CHIEN ; Lee, Ni-Chung ; WUH-LIANG HWU ; Hwu, Paul Wuh-Liang; Chien, Yin-Hsiu ; Fahiminiya, Somayyeh; Majewski, Jacek; Watkins, David; Rosenblatt, David S.journal article2218
622012Gene therapy for aromatic L-amino acid decarboxylase deficiencyRuey-Meei Wu ; CHUN-HWEI TAI ; NI-CHUNG LEE ; KAI-YUAN TZEN ; YIN-HSIU CHIEN ; WUH-LIANG HWU journal article9995
632012A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a childNI-CHUNG LEE ; Liu, Hsin-Ming; WANG-TSO LEE ; Tsai, Li-Ping; WEN-CHIN WENG ; Chien, Yin-Hsiu ; JIA-FENG WU ; Wu, Jia-Feng ; YIN-HSIU CHIEN ; Weng, Wen-Chin ; Peng, Shinn-Forng; I-JUNG TSAI ; Wu, En-Ting ; WUH-LIANG HWU ; Huang, Pei-Hsin ; PEI-HSIN HUANG ; EN-TING WU ; Lee, Wang-Tso ; Tsai, I-Jun; Hwu, Wuh-Liang ; Lee, Ni-Chung ; 彭信逢 journal article77
642011Congenital Hypopituitarism due to POU1F1 Gene MutationNI-CHUNG LEE ; YI-CHING TUNG ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; WEN-YU TSAI journal article23
652011Unusual spinal cord lesions in late-onset non-ketotic hyperglycinemiaNI-CHUNG LEE ; WANG-TSO LEE ; WEN-CHIN WENG ; WUH-LIANG HWU journal article55
662011Rapid progressive course of later-onset Pompe disease in Chinese patientsNI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU journal article2625
672011Congenital hypopituitarism due to POU1F1 gene mutationNI-CHUNG LEE ; YI-CHING TUNG ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; WEN-YU TSAI journal article23
682011Later-onset pompe disease: Early detection and early treatment initiation enabled by newborn screeningNI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU journal article6051
692011Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry diseaseNI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU journal article77
702011Mitochondrial DNA polymerase γ mutations: An ever expanding molecular and clinical spectrumNI-CHUNG LEE journal article9791
712011Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapyCHUN-AN CHEN ; NI-CHUNG LEE ; SHUENN-NAN CHIU ; MING-TAI LIN ; MEI-HWAN WU ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; JOU-KOU WANG ; CHUN-WEI LU journal article1817
722010Stabilization 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 journal article2020
732010Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpointsMING CHEN ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU journal article1313
742010Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in TaiwanNI-CHUNG LEE ; WUH-LIANG HWU journal article118
752010Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot programNI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU journal article6356
762010Enzyme replacement therapy for mucopolysaccharidosis VI-experience in TaiwanNI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU journal article1312
772010Diagnoses of newborns and mothers with carnitine uptake defects through newborn screeningCHUN-AN CHEN ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU journal article4439
782010CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiencyNI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU journal article1513
792010Newborn screening for neuropathic lysosomal storage disordersNI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU journal article1817
802010FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndromeNI-CHUNG LEE ; WUH-LIANG HWU journal article31
812010Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher diseaseNI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU journal article22
822010新生兒篩檢胡務亮 ; YIN-HSIU CHIEN ; 簡穎秀 ; WUH-LIANG HWU ; 李妮鍾 journal article00
832009Clinical features of AADC-deficient children and therapeutic prospectsYIN-HSIU CHIEN ; HWU, WUH-LIANG ; CHIEN, YIN-HSIU ; LEE, NI-CHUNG ; LEE, WANG-TSO ; WU, RUEY-MEEI journal article00
842009Pseudogene-derived IKBKG gene mutations in incontinentia pigmentiNI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU journal article55
852009Caloric restriction in Alström syndrome prevents hyperinsulinemiaNI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; WEN-YU TSAI journal article1212
862009Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe DiseaseCHUN-AN CHEN ; NI-CHUNG LEE ; SHUENN-NAN CHIU ; MING-TAI LIN ; MEI-HWAN WU ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; JOU-KOU WANG journal article4234
872009Glycogen Storage Disease Type Ib: The First Case in TaiwanNI-CHUNG LEE ; HSIU-HAO CHANG ; YIN-HSIU CHIEN ; WUH-LIANG HWU journal article11
882009Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisationNI-CHUNG LEE ; WUH-LIANG HWU journal article2517
892009Newborn screening for fabry disease in taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU journal article189174
902009Pompe disease in infants: Improving the prognosis by newborn screening and early treatmentNI-CHUNG LEE ; MEI-HWAN WU ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; PEI-HSIN HUANG journal article132118
912009Cryptic subtelomeric deletion plus inverted duplication at chromosome 18q in a fetus: Molecular delineation by multicolor bandingNI-CHUNG LEE ; MING CHEN ; WUH-LIANG HWU journal article33
922009Eye anomalies and neurological manifestations in patients with PAX6 mutations.NI-CHUNG LEE journal article
932009Somatic and germ-line mosaicism in Rubinstein-Taybi syndromeNI-CHUNG LEE ; WUH-LIANG HWU journal article2224
942009Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCRNI-CHUNG LEE ; SHIN-YU LIN; WEN-FANG CHENG; CHIEN-NAN LEEjournal article56
952008Brain Damage by Mild Metabolic Derangements in Methylmalonic AcidemiaNI-CHUNG LEE ; Lee, NC; Chien, YH; YIN-HSIU CHIEN ; Peng, SF; WUH-LIANG HWU ; Huang, AC; Liu, TT; Wu, AS; Chen, LC; Hsu, LW; Tseng, SC; Hwu, WL.journal article1816
962008Changes in incidence and sex ratio of glucose-6-phosphate dehydrogenase deficiency by population drift in TaiwanNI-CHUNG LEE journal article
972008Screening for pompe disease and fabry diseaseNI-CHUNG LEE ; Hwu, WL; Chien, YH; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Lee, NC.; HWU, WUH-LIANG; CHIEN, YIN-HSIU; LEE, NI- CHUNGjournal article11
982008Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiencyNI-CHUNG LEE journal article139
992008Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening programCHUN-AN CHEN ; Chien, YH; Chiang, SC; NI-CHUNG LEE ; MEI-HWAN WU ; Zhang, XK; YIN-HSIU CHIEN ; Keutzer, J; WUH-LIANG HWU ; Lee, NC; Huang, AC; PEI-HSIN HUANG ; Chen, CA; Wu, MH; Huang, PH; Tsai, FJ; Chen, YT; Hwu, WLjournal article162145
1002008Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and CardiomyopathyNI-CHUNG LEE ; PI-CHUAN FAN ; WANG-TSO LEE ; WEN-CHIN WENG ; WUH-LIANG HWU journal article310
1012008Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature review陳坤鍾; WU-SHIUN HSIEH ; 葉志嶸; NI-CHUNG LEE ; 謝清麟; MING-TAI LIN ; 楊順發; MEI-HWAN WU ; YIN-HSIU CHIEN ; 王淳厚; WUH-LIANG HWU ; CHEN, KUN-CHUNG; YEH, CHIH-JUNG; HSIEH, CHING-LIN; YEN, TING-YU; YANG, SHUN-FA; WANG, CHUN-HOU; HWU, WUH-LIANG; CHIEN, YIN- HSIU; WU, MEI-HWAN; LIN, MING-TAI; TSAO, LON-YEN; HSIEH, WU-SHIUN; LEE, NI-CHUNGjournal article3631
1022007Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency.NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU journal article1112
1032007Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.NI-CHUNG LEE ; LI-KAI TSAI ; SHYH-JYE CHEN ; YIN-HSIU CHIEN ; WUH-LIANG HWU journal article3933
1042006Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiencyNI-CHUNG LEE journal article1011
1052006α-Galactosidase activity should be examined in patients with proteinuria: What have we learned from a family affected with Fabry disease? [5]NI-CHUNG LEE journal article43
1062006Brain development in infantile-onset pompe disease treated by enzyme replacement therapyNI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU journal article5143
1072006Corneal lesion as the initial manifestation of tyrosinemia type IINI-CHUNG LEE journal article
1082005Intrafamilial phenotype variation in Marfan syndrome ascertained by intragenic linkage analysis.NI-CHUNG LEE journal article
1092004Neonatal bacteremia in a neonatal intensive care unit: Analysis of causative organisms and antimicrobial susceptibilityNI-CHUNG LEE journal article
1102004Contributions of bone maturation measurements to the differential diagnosis of neonatal transient hypothyroidism versus dyshormonogenetic congenital hypothyroidismNI-CHUNG LEE journal article31
1112003Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: Report of One CaseNI-CHUNG LEE journal article
1122003Retroperitoneal Arteriovenous Malformation Causing Congestive Heart Failure - One Case ReportNI-CHUNG LEE journal article