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Pediatric Nephrology (Berlin, Germany)|April 8, 2024
Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndromeRong Du, Chengcheng Zhou, Shehong Chen, 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.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.Plos One|October 22, 2024
Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screeningMinyi Tan, Xiulian Liu, Yinhong Zhang, et al.JAMA Network Open|September 1, 2023
Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn ScreeningTing Chen, Chunna Fan, Yonglan Huang, et al.Pageof 6