Yonglan Huang

Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening

Ting Chen, Chunna Fan, Yonglan Huang et al. · JAMA Network Open · 2023 · 85 citations · Full text

Medicine, Genetics, Pediatrics +16

Characteristics of Pompe disease in China: a report from the Pompe registry

Yuying Zhao, Zhaoxia Wang, Jiahong Lu et al. · Orphanet Journal of Rare Diseases · 2019 · 44 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Separation and identification of underivatized plasma acylcarnitine isomers using liquid chromatography–tandem mass spectrometry for the differential diagnosis of organic acidemias and fatty acid oxidation defects

Xiefan Fang, Yonglan Huang, Yanna Cai et al. · Journal of Chromatography A · 2013 · 41 citations

Life Sciences, Biochemistry, Pharmacology +14

The Prevalence, Clinical, and Molecular Characteristics of Congenital Hypothyroidism Caused by DUOX2 Mutations: A Population-Based Cohort Study in Guangzhou

Mingpu Tan, Yonglan Huang, Xueyan Jiang et al. · Hormone and Metabolic Research · 2016 · 38 citations

Medicine, Endocrinology, Genetics +17

Clinical and molecular characteristics of patients with Gaucher disease in Southern China

Yuyu Feng, Yonglan Huang, Chengfang Tang et al. · Blood Cells Molecules and Diseases · 2016 · 32 citations

Life Sciences, Genetics, Molecular Medicine +7