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Italian Journal of Pediatrics|March 19, 2025
Allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis patients: a single-center experience and assessment of quality of lifeWen Zhang, Yonglan Huang, Xueying Su, et al.
Metabolic Brain Disease|May 22, 2024
Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variantsTaolin Li, Yonglan Huang, Chunyan Tao, et al.
Prenatal Diagnosis|July 3, 2018
Early prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysisDuan Li, Yunting Lin, Yonglan Huang, et al.
Blood Cells, Molecules & Diseases|November 21, 2016
Clinical and molecular characteristics of patients with Gaucher disease in Southern ChinaYuyu Feng, Yonglan Huang, Chengfang Tang, et al.
American Journal of Medical Genetics. Part A|June 8, 2019
Clinical features and mutational analysis in 114 young children with Wilson disease from South ChinaXiuzhen Li, Zhikun Lu, Yunting Lin, et al.
Orphanet Journal of Rare Diseases|November 12, 2025
Clinical characteristics, genetic spectrum and therapeutic effects of 51 male patients with idiopathic hypogonadotropic hypogonadism from southern ChinaHuiying Sheng, Cuili Liang, Jing Cheng, et al.
Metabolism: Clinical and Experimental|February 12, 2019
A novel GTPCH deficiency mouse model exhibiting tetrahydrobiopterin-related metabolic disturbance and infancy-onset motor impairmentsXiaoling Jiang, Huazhen Liu, Yongxian Shao, et al.
Molecular Therapy. Methods & Clinical Development|March 19, 2025
Evaluation of efficacy and safety of AAV8-ΔC4ATP7B gene therapy in a mutant mouse model of Wilson's diseaseChunhua Zeng, Yunting Lin, Xinshuo Lu, et al.
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