Lv4
470 积分 2024-02-03 加入
[Clinical phenotypic and genotypic analysis of 5 pediatric patients with β-ketothiolase deficiency]
1小时前
求助中
[Clinical features and genetic analysis of three children with β-ketothiolase deficiency]
1小时前
求助中
Defective lysosomal release of vitamin B12 (cblF): A hereditary cobalamin metabolic disorder associated with sudden death
14天前
已完结
Defect in Vitamin B 12 Release from Lysosomes: Newly Described Inborn Error of Vitamin B 12 Metabolism
14天前
已完结
Methylmalonic aciduria (cblF): Case report and response to therapy
21天前
已完结
Cobalamin F Disease Detected by Newborn Screening and Follow-up on a 14-Year-Old Patient
23天前
已完结
Eighteen‐year follow‐up of a patient with cobalamin F disease (cblF): Report and review
23天前
已完结
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism
23天前
已完结
Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism
24天前
已完结
A novel mutation in LMBRD1 causes the cblF defect of vitamin B12 metabolism in a Turkish patient
24天前
已完结
皖公网安备34019202002308
