Yung-Hsiu Lu

Later Onset Fabry Disease, Cardiac Damage Progress in Silence

Ting‐Rong Hsu, Sheng‐Che Hung, Fu‐Pang Chang et al. · Journal of the American College of Cardiology · 2016 · 108 citations

Medicine, Cardiology, Neurology +12

Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A)

Haochuan Liu, Hsiang-Yu Lin, Chia‐Feng Yang et al. · Orphanet Journal of Rare Diseases · 2014 · 38 citations · Full text

Life Sciences, Cardiology, Genetics +14

Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes

Fang‐Chih Tsai, Han-Jui Lee, An-Guor Wang et al. · Journal of the Chinese Medical Association · 2017 · 35 citations

Medicine, Nutrition, Pediatrics +16

Six New Mutations of the Thyroglobulin Gene Discovered in Taiwanese Children Presenting with Thyroid Dyshormonogenesis

Dau‐Ming Niu, Ju-Hui Hsu, Kah-Wai Chong et al. · The Journal of Clinical Endocrinology & Metabolism · 2009 · 34 citations · Full text

Life Sciences, Endocrinology, Genetics +13

Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry

Yung-Hsiu Lu, Po‐Hsun Huang, Li-Yun Wang et al. · Journal of Human Genetics · 2017 · 26 citations

Medicine, Genetics, Molecular Genetics +13