Shu-Chuan Chiang

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

Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening

Yin‐Hsiu Chien, Shu-Chuan Chiang, Wen‐Chin Weng et al. · The Journal of Pediatrics · 2017 · 162 citations

Medicine, Neurology, Pediatrics +9

Fabry 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

Yin‐Hsiu Chien, Ni‐Chung Lee, Shu-Chuan Chiang et al. · Molecular Medicine · 2012 · 88 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program

Shu-Chuan Chiang, Wuh‐Liang Hwu, Ni‐Chung Lee et al. · Molecular Genetics and Metabolism · 2012 · 82 citations

Medicine, Pediatrics, Preventive Medicine +13

Incidence of severe combined immunodeficiency through newborn screening in a Chinese population

Yin‐Hsiu Chien, Shu-Chuan Chiang, Kai‐Ling Chang et al. · Journal of the Formosan Medical Association · 2013 · 76 citations · Full text

Medicine, Immunology, Pediatrics +13