Late-Onset Carnitine–Acylcarnitine Translocase Deficiency With SLC25A20 c.199-10T>G Variation: Case Report and Pathologic Analysis of Liver Biopsy
Author:
Publisher
Frontiers Media SA
Subject
Pediatrics, Perinatology, and Child Health
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4. A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency;Korman;Mol Genet Metab.,2006
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2. Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing;International Journal of Neonatal Screening;2023-01-11
3. One potential hotspot SLC25A20 gene variants in Chinese patients with carnitine-acylcarnitine translocase deficiency;Frontiers in Pediatrics;2022-11-07
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