Lv11
50 积分 2024-08-12 加入
Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect
3小时前
待确认
Approaches for diagnosis and treatment in neurotransmitter disorders of childhood
6天前
已完结
Mutation spectrum and genotype-phenotype correlation of pediatric patients with methylmalonic acidemia
7天前
已完结
[Diagnosis of glycogen storage disease type IIIA by detecting glycogen debranching enzyme activity, glycogen content and structure in muscle]
13天前
已完结
[Analysis of clinical features and GCDH gene mutations in four patients with glutaric academia type I]
26天前
已完结
[Three Chinese children with Niemann-Pick disease type C with neonatal cholestasis as initial presentation]
1个月前
已关闭
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
1个月前
已完结
Clinical features and mutational spectrum of Chinese patients with primary hyperoxaluria type 2
2个月前
已完结
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