公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
---|---|---|---|---|---|---|
2006 | Tandem mass neonatal screening in Taiwan - Report from one center | HSIANG-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 Association | 33 | 25 | |
2022 | Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity | Chan 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 Immunology | 2 | 2 | |
2004 | Terminal deletion of chromosome 2q associated with Graves' disease: A case report and literature review | Chu S.-Y.; WEN-YU TSAI ; YIN-HSIU CHIEN ; Fang J.-S.; Ku C.-W.; Chang P.-Y.; WUH-LIANG HWU | Tzu Chi Medical Journal | 1 | ||
2020 | Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical center | Liu 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 Association | 3 | 0 | |
2006 | Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency | NI-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 Disease | 28 | 15 | |
2020 | The timely needs for infantile onset pompe disease newborn screening—practice in Taiwan | Chiang S.-C.; YIN-HSIU CHIEN ; Chang K.-L.; NI-CHUNG LEE ; WUH-LIANG HWU | International Journal of Neonatal Screening | 1 | 1 | |
2008 | Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe disease | Huang P.-K.; Wang C.-C.; SHUENN-NAN CHIU ; EN-TING WU ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; JOU-KOU WANG ; MEI-HWAN WU | Paediatric Anaesthesia | 5 | 6 | |
2008 | Transcatheter Closure of Portal-Systemic Shunt Combining Congenital Double Extrahepatic Inferior Vena Cava with Vascular Plug | SHUENN-NAN CHIU ; YIN-HSIU CHIEN ; MEI-HWAN WU ; JOU-KOU WANG ; SHYH-JYE CHEN | Journal of Pediatrics | 12 | 10 | |
2001 | Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations | YIN-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 Disease | 32 | 20 | |
2014 | Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vector | NI-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 Therapy | 15 | 15 | |
2007 | Treatment 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 disease | 43 | 36 | |
2020 | Turner syndrome and cardiovascular anomalies: Care for girls and women | Chiu H.-H.; YIN-HSIU CHIEN | Pediatrics and Neonatology | 0 | 0 | |
2024 | Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights | HUI-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 | |||
2014 | Two Frequent Mutations Associated with the Classic Form of Propionic Acidemia in Taiwan | Chiu 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 Genetics | 14 | 13 | |
2005 | Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation | CHUN-AN CHEN ; Tang N.L.S.; YIN-HSIU CHIEN ; Zhang W.-M.; JOU-KOU WANG ; WUH-LIANG HWU | BMC Medical Genetics | 3 | 3 | |
1999 | Typhoid fever presenting as infection-associated hemophagocytic syndrome: Report of one case | YIN-HSIU CHIEN ; PING-ING LEE ; LI-MIN HUANG ; CHIN-YUN LEE ; DONG-TSAMN LIN ; KAI-HSIN LIN | Acta Paediatrica Taiwanica | 10 | 0 | |
2020 | Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice | NI-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 Reports | 2 | 2 | |
2023 | Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population | Hsu, 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 medicine | 0 | 0 | |
2014 | The value of muscle biopsies in Pompe disease: Identifying lipofuscin inclusions in juvenile- and adult-onset patients | Feeney 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 Communications | 48 | 46 | |
2005 | Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism | HSIANG-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 Association | 12 | 11 |