Shuan-Pei Lin

The Morquio A Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects

Paul Harmatz, Eugen Mengel, Roberto Giugliani et al. · Molecular Genetics and Metabolism · 2013 · 148 citations · Full text

Medicine, Physiology, Exercise Testing +15

Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria

Mei‐Ying Liu, Yan-Ling Yang, Ying-Chen Chang et al. · Journal of Human Genetics · 2010 · 97 citations

Life Sciences, Genetics, Molecular Genetics +13

3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency

Yin‐Hsiu Chien, Pin-Wen Chen, Ni‐Chung Lee et al. · Molecular Genetics and Metabolism · 2016 · 61 citations

Medicine, Child Health, Pediatrics +14

Netherton syndrome: mutation analysis of two Taiwanese families

Shuan-Pei Lin, Shu-Yi Huang, Mei‐Eng Tu et al. · Archives of Dermatological Research · 2007 · 58 citations

Life Sciences, Genetics, Molecular Genetics +11

Rapid progressive course of later-onset Pompe disease in Chinese patients

Chih‐Chao Yang, Yin‐Hsiu Chien, Ni‐Chung Lee et al. · Molecular Genetics and Metabolism · 2011 · 48 citations

Life Sciences, Health Sciences, Neurology +5