Lv3
370 积分 2025-08-19 加入
A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency
5天前
已完结
Sudden death with cardiac involvement in a neonate with carnitine-acylcarnitine translocase deficiency
5天前
已完结
Sudden infant death from neonate carnitine palmitoyl transferase II deficiency
5天前
已完结
Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing
5天前
已完结
Neonatal sudden death caused by a novel heterozygous mutation in SLC25A20 gene: A case report and brief literature review
5天前
已完结
[Analysis of four carnitine-acylcarnitine translocase deficiency cases caused by homozygous mutation of SLC25A20 c.199-10T> G]
5天前
已完结
Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency: Experience with six patients in Guangdong China
6天前
已完结
Pre‐eclampsia in a woman whose child suffered from lethal carnitine‐acylcarnitine translocase deficiency
6天前
已完结
Prospective treatment in carnitine–acylcarnitine translocase deficiency
6天前
已完结
A Pediatric Case of Extraneural Subcutaneous Metastasis of Ependymoma
6个月前
已完结
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