Yin‐Hsiu Chien

Recombinant human acid α-glucosidase

Priya S. Kishnani, Deya Corzo, Marc Nicolino et al. · Neurology · 2006 · 772 citations · Full text

Life Sciences, Pharmacology, Pharmacotherapy +10

Biparental Inheritance of Mitochondrial DNA in Humans

Shiyu Luo, C. Alexander Valencia, Jinglan Zhang et al. · Proceedings of the National Academy of Sciences · 2018 · 451 citations · Full text

Medicine, Genetics, Molecular Genetics +11

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset<i>GLA</i>mutation c.936+919G&gt;A (IVS4+919G&gt;A)

Wuh‐Liang Hwu, Yin‐Hsiu Chien, Ni‐Chung Lee et al. · Human Mutation · 2009 · 358 citations · Full text

Medicine, Genetics, Pediatrics +17

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

David McHugh, Cynthia A. Cameron, José E. Abdenur et al. · Genetics in Medicine · 2011 · 352 citations · Full text

Medicine, Biochemistry, Mass Spectrometric Analysis +16

Early Detection of Pompe Disease by Newborn Screening Is Feasible: Results From the Taiwan Screening Program

Yin‐Hsiu Chien, Shu‐Chuan Chiang, Xiaokui Kate Zhang et al. · PEDIATRICS · 2008 · 242 citations

Medicine, Pediatrics, Early Detection +15