Lv3
282 积分 2025-04-14 加入
Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations
30天前
已完结
Sequence of two alleles responsible for Gaucher disease
30天前
已完结
Gaucher disease paradigm: from ERAD to comorbidity
30天前
已完结
Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the Argentinean population
1个月前
已完结
The low expression allele (IVS3-48C) of the ferrochelatase gene leads to low enzyme activity associated with erythropoietic protoporphyria
1个月前
已完结
The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH
1个月前
已完结
Molecular characterization of cystinuria in south-eastern European countries
1个月前
已完结
Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing
1个月前
已关闭
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria
1个月前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
1个月前
已完结
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