Lv52
870 积分 2024-08-15 加入
Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report
21小时前
已完结
A pilot study of newborn screening for X-linked adrenoleukodystrophy based on liquid chromatography-tandem mass spectrometry method for detection of C26:0-lysophosphatidylcholine in dried blood spots: Results from 43,653 newborns in a southern Chinese population
21天前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
24天前
已关闭
Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease
26天前
已完结
Twenty-Four Novel Mutations in Wilson Disease Patients of Predominantly Italian Origin
1个月前
已完结
The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation
1个月前
已完结
Unexpected glucose‐6‐phosphate dehydrogenase deficiency
1个月前
已完结
The First Case of a Class I Glucose-6-phosphate Dehydrogenase Deficiency, G6PD Santiago de Cuba (1339 GA), in a Chinese Population as Found in a Survey for G6PD Deficiency in Northeastern and Central China
1个月前
已完结
Structure and function of glucose-6-phosphate dehydrogenase-deficient variants in Chinese population
1个月前
已完结
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