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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.Journal of Pediatric Endocrinology & Metabolism : JPEM|November 26, 2022
Features of BSCL2 related congenital generalized lipodystrophy in China: long-term follow-up of three patients and literature reviewXueying Su, Yunting Lin, Li Liu, et al.BMJ Open Diabetes Research & Care|August 15, 2020
Molecular and clinical characteristics of monogenic diabetes mellitus in southern Chinese children with onset before 3 years of ageYunting Lin, Huiying Sheng, Tzer Hwu Ting, et al.Neurobiology of Disease|July 13, 2020
Neddylation activity modulates the neurodegeneration associated with fragile X associated tremor/ataxia syndrome (FXTAS) through regulating SimaYunting Lin, Jin Xue, Jing Deng, 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.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.Frontiers in Pediatrics|November 21, 2022
Clinical characteristics and long-term outcomes of 12 children with vitamin D-dependent rickets type 1A: A retrospective studyYunting Lin, Zhihong Guan, Huifen Mei, et al.Liver International : Official Journal of the International Association for the Study of the Liver|June 7, 2024
Clinical characteristics and prognosis of early diagnosed Wilson's disease: A large cohort studySimin Li, Yunting Lin, Shehong Chen, 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.Pageof 6