Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference21 articles.
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3. The mitochondrial carnitine/acylcarnitine carrier: function, structure and physiopathology;Indiveri;Mol Aspects Med,2011
4. Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature;Vitoria;JIMD Rep,2015
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1. A Comprehensive LOVD Database for Fatty Acid Oxidation Disorders in Chinese Populations;Human Mutation;2023-07-25
2. Increased acylcarnitine ratio indices in newborn screening for carnitine-acylcarnitine translocase deficiency shows increased sensitivity and reduced false-positivity;Translational Pediatrics;2023-05
3. Carnitine-acylcarnitine translocase deficiency caused by SLC25A20 gene heterozygous variants in twins: a case report;Journal of International Medical Research;2023-04
4. 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
5. One potential hotspot SLC25A20 gene variants in Chinese patients with carnitine-acylcarnitine translocase deficiency;Frontiers in Pediatrics;2022-11-07
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