Lv12
30 积分 2024-06-12 加入
Prevalence of methylmalonic acidemia among newborns and the clinical-suspected population: a meta-analyse
49分钟前
待确认
Analysis of genetic mutation distribution and metabolic characteristics in patients with primary carnitine deficiency from the Ganzhou area, China
1小时前
求助中
Chronic Pancreatitis Associated with Adult-Onset Type II Citrullinemia: Clinical and Pathologic Findings
21小时前
已完结
Peripheral T-Cell Lymphoma, Hemophagocytic Lymphohistiocytosis, and XIAP Gene Mutations: Getting the Treatment Right!
4天前
已完结
Screening of ABCG5 and ABCG8 Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program
14天前
已关闭
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
14天前
已完结
[Usher type I syndrome in children: genotype/phenotype correlation and cochlear implant benefits]
20天前
已关闭
P5024Pathogenic mechanism of DSG2-F531C mutation caused arrhythmogenic right ventricular cardiomyopathy
1个月前
已完结
Dual Oxidase System Genes Defects in Children With Congenital Hypothyroidism
1个月前
已关闭
[Analysis of 12 cases with methylmalonicacidemia cblA type]
1个月前
已完结
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