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BMC Gastroenterology|March 17, 2022
Assessment of the diagnostic value of serum ceruloplasmin for Wilson's disease in childrenXinshuo Lu, Simin Li, Wen Zhang, et al.
BMC Pediatrics|November 26, 2019
Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature reviewXiaojian Mao, Sichi Liu, Yunting Lin, et al.
BMC Musculoskeletal Disorders|March 8, 2020
Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature reviewChunhua Zeng, Yunting Lin, Zhikun Lu, et al.
Metabolic Brain Disease|August 12, 2015
Clinical, biochemical, neuroimaging and molecular findings of X-linked Adrenoleukodystrophy patients in South ChinaMin-yan Jiang, Yan-na Cai, Cui-li Liang, et al.
Orphanet Journal of Rare Diseases|May 15, 2024
Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective studyLing Su, Huiying Sheng, Xiuzhen Li, et al.
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.
International Journal of Neonatal Screening|April 23, 2024
Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass SpectrometryChengfang Tang, Lixin Li, Ting Chen, 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.
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