Lv2
120 积分 2024-02-03 加入
Four novel GALC gene mutations in two Chinese patients with Krabbe disease
2个月前
已完结
Chromosome analysis in 92 children with congenital mental retardation
2个月前
已关闭
Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene
3个月前
已完结
Phenotype puzzle: the role of novel LMBRD1 gene variant in Cbl deficiency causing Dyskeratosis Congenita-like clinical manifestations
4个月前
已完结
[Retrospective analysis on clinical data and genetic variations of patients with beta-ketothiolase deficiency]
5个月前
已完结
[Analysis of clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency]
5个月前
已完结
Characterization and outcome of 41 patients with beta‐ketothiolase deficiency: 10 years’ experience of a medical center in northern Vietnam
5个月前
已完结
Identification of two novel ACAT1 variant associated with beta-ketothiolase deficiency in a 9-month-old boy
5个月前
已完结
[Analysis of disease spectrum for abnormal 3-hydroxyisovalerylcarnitine metabolism identified through newborn screening and clinical diagnosis]
5个月前
已完结
[Expert consensus on diagnosis and management of dyslipidemia in children]
5个月前
已完结
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