Yu-Yuan Ke

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Daniela A. Braun, Jia Rao, Géraldine Mollet et al. · Nature Genetics · 2017 · 221 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Chronic Iron Overload Results in Impaired Bacterial Killing of THP-1 Derived Macrophage through the Inhibition of Lysosomal Acidification

Jun‐Kai Kao, Shih-Chung Wang, Li-Wei Ho et al. · PLoS ONE · 2016 · 51 citations · Full text

Life Sciences, Immunology, Microbiology +16

Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A)

Hsuan-Chieh Liao, Yu-Hsiu Huang, Yann-Jang Chen et al. · Clinica Chimica Acta · 2013 · 40 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA

Hsiang‐Yu Lin, Chih‐Kuang Chuang, Ming-Ren Chen et al. · Orphanet Journal of Rare Diseases · 2014 · 38 citations · Full text

Medicine, Pathology, Pediatrics +9

Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series

Hsiang‐Yu Lin, Chih‐Kuang Chuang, Chung-Hsing Wang et al. · Molecular Genetics and Metabolism Reports · 2016 · 34 citations · Full text

Life Sciences, Biochemistry, Pharmacology +11