Lv1
70 积分 2023-07-14 加入
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency
10天前
已完结
Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to ?-subunit mutations
3个月前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
1年前
已完结
Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene
1年前
已关闭
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations
1年前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
1年前
已完结
Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study
1年前
已完结
Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations
1年前
已完结
Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran
1年前
已完结
Clinical, biochemical, and genotype‐phenotype correlations of 118 patients with Niemann‐Pick disease Types A/B
1年前
已完结
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