Ai-Chu Huang

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

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

Pompe Disease in Infants: Improving the Prognosis by Newborn Screening and Early Treatment

Yin‐Hsiu Chien, Ni‐Chung Lee, Beth L. Thurberg et al. · PEDIATRICS · 2009 · 230 citations

Medicine, Child Health, Pediatrics +13

Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening

Ni‐Chung Lee, Nelson L.S. Tang, Yin‐Hsiu Chien et al. · Molecular Genetics and Metabolism · 2009 · 102 citations

Medicine, Child Health, Pediatrics +12

Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer

Po‐Han Lin, Wen‐Hung Kuo, Ai-Chu Huang et al. · Oncotarget · 2016 · 99 citations · Full text

Medicine, Genetics, Oncology +16