Lv21
140 积分 2025-05-13 加入
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type
1小时前
待确认
The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum
1小时前
已完结
The genotype analysis and prenatal genetic diagnosis among 244 pedigrees with methylmalonic aciduria in China
2小时前
已完结
Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol
7天前
已完结
Spectrum of Delta7-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome
7天前
已完结
[Genetic variant analysis and prenatal diagnosis for Chinese pedigrees affected with cblC methylmalonic acidemia]
12天前
已完结
Argininosuccinate synthetase deficiency: mutation analysis in 3 Thai patients
13天前
已完结
An analysis of allelic variation in the ABCA4 gene
17天前
已完结
[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI]
27天前
已完结
[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI]
27天前
已关闭
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