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Clinical Genetics|September 15, 2017
Management of Leigh syndrome: Current status and new insightsL Chen, Y Cui, D Jiang, et al.Journal of the Formosan Medical Association = Taiwan Yi Zhi|April 19, 2000
Late-onset holocarboxylase synthetase deficiency with homologous R508W mutationW L Hwu, Y Suzuki, X Yang, et al.Clinical Genetics|April 16, 2003
Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry diseaseC-C Yang, L-W Lai, O Whitehair, et al.Journal of the Formosan Medical Association = Taiwan Yi Zhi|June 28, 2000
Metabolic disorders mimicking Reye's syndromeP F Chang, S F Huang, W L Hwu, et al.Human Mutation|August 31, 2002
A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patientsNelson L S Tang, W L Hwu, Rachel T Chan, et al.Journal of Inherited Metabolic Disease|August 19, 2007
Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiencyW-L Hwu, Y-H Chien, N L S Tang, et al.Journal of Neurology|May 7, 2008
Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type IIL Wan, C-C Lee, C-M Hsu, et al.Journal of Neurology, Neurosurgery, and Psychiatry|March 19, 2005
Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type CC-C Yang, Y-N Su, P-C Chiou, et al.Archives of Disease in Childhood|December 24, 2008
Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisationN-C Lee, D Dimmock, W-L Hwu, et al.Pediatric Transplantation|August 19, 2009
Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantationP W Chen, W L Hwu, M C Ho, et al.Pageof 17