第 1 到 15 筆結果,共 15 筆。
公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 | |
---|---|---|---|---|---|---|---|
1 | 2023 | Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe disease | Hsu, 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 Genetics | 6 | 4 | |
2 | 2022 | The diversity of hereditary neuromuscular diseases: Experiences from molecular diagnosis | HSUEH-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 zhi | 1 | 1 | |
3 | 2021 | CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening | WEN-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 Genetics | 13 | 8 | |
4 | 2017 | Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening | YIN-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 Pediatrics | 115 | 91 | |
5 | 2015 | Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutation | Hsiue 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 Medicine | 1 | 1 | |
6 | 2012 | A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child | Liu 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 Neonatology | 10 | 9 | |
7 | 2012 | Early pathologic changes and responses to treatment in patients with later-onset Pompe disease | YIN-HSIU CHIEN ; NI-CHUNG LEE ; PEI-HSIN HUANG ; WANG-TSO LEE ; Thurberg B.L.; WUH-LIANG HWU | Pediatric Neurology | 20 | 16 | |
8 | 2011 | Unusual spinal cord lesions in late-onset non-ketotic hyperglycinemia | Wei S.-H.; WEN-CHIN WENG ; NI-CHUNG LEE ; WUH-LIANG HWU ; WANG-TSO LEE | Journal of Child Neurology | 11 | 11 | |
9 | 2010 | Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency | Brun L.; Ngu L.H.; Keng W.T.; Ch'Ng G.S.; Choy Y.S.; WUH-LIANG HWU ; WANG-TSO LEE ; Willemsen M.A.A.P.; Verbeek M.M.; Wassenberg T.; R?gal L.; Orcesi S.; Tonduti D.; Accorsi P.; Testard H.; Abdenur J.E.; Tay S.; Allen G.F.; Heales S.; Kern I.; Kato M.; Burlina A.; Manegold C.; Hoffmann G.F.; Blau N. | Neurology | 189 | 149 | |
10 | 2008 | Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy | Wang S.-B.; WEN-CHIN WENG ; NI-CHUNG LEE ; WUH-LIANG HWU ; PI-CHUAN FAN ; WANG-TSO LEE | Pediatrics and Neonatology | 49 | 0 | |
11 | 2004 | Adrenoleukodystrophy: Clinical analysis of 9 Taiwanese children | Liang J.-S.; WANG-TSO LEE ; WUH-LIANG HWU ; STEVEN SHINN-FORNG PENG ; Chu L.-W.; Wang P.-J.; Shen Y.-Z. | Acta Paediatrica Taiwanica | 9 | 0 | |
12 | 2004 | Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan | YIN-HSIU CHIEN ; Hsu C.-C.; Huang A.; Chou S.-P.; FRANK LEIGH LU ; WANG-TSO LEE ; WUH-LIANG HWU | Journal of Child Neurology | 37 | 30 | |
13 | 2003 | Adrenoleukodystrophy initially diagnosed as idiopathic Addison's disease in two patients: The importance of early testing | WUH-LIANG HWU ; YIN-HSIU CHIEN ; Liang J.-S.; WANG-TSO LEE ; Wang P.-J.; WEN-YU TSAI | Journal of the Formosan Medical Association | 7 | 4 | |
14 | 1998 | The controversy regarding diagnostic criteria for early myoclonic encephalopathy | Wang P.-J.; WANG-TSO LEE ; WUH-LIANG HWU ; Young C.; Yau K.-I.T.; Shen Y.-Z. | Brain and Development | 23 | 12 | |
15 | 1997 | Duplication of proteolipid protein gene: A possible major cause of Pelizaeus-Merzbacher disease | Wang P.-J.; WUH-LIANG HWU ; WANG-TSO LEE ; Wang T.-R.; Shen Y.-Z. | Pediatric Neurology | 32 | 27 |