Carnitine–acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response-Reference-Cited by-同舟云学术

Carnitine–acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response

Published:2015-08 Issue:7 Volume:37 Page:698-703
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Vatanavicharn Nithiwat,Yamada Kenji,Aoyama Yuka,Fukao Toshiyuki,Densupsoontorn Narumon,Jirapinyo Pipop,Sathienkijkanchai Achara,Yamaguchi Seiji,Wasant Pornswan

Funder

Siriraj Chalermprakiat Fund

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference24 articles.

1. A deficiency of carnitine–acylcarnitine translocase in the inner mitochondrial membrane;Stanley;N Engl J Med,1992

2. Cloning of the human carnitine–acylcarnitine carrier cDNA and identification of the molecular defect in a patient;Huizing;Am J Hum Genet,1997

3. The structure and organization of the human carnitine/acylcarnitine translocase (CACT) gene;Iacobazzi;Biochem Biophys Res Commun,1998

4. Recognition and management of fatty acid oxidation defects: a series of 107 patients;Saudubray;J Inherit Metab Dis,1999

5. Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations;Hui;Pathology,2014

Cited by 23 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Carnitine-acylcarnitine translocase deficiency caused by SLC25A20 gene heterozygous variants in twins: a case report;Journal of International Medical Research;2023-04

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

4. Neonatal sudden death caused by a novel heterozygous mutation in SLC25A20 gene: A case report and brief literature review;Legal Medicine;2022-02

5. Whole exome sequencing analysis in a couple with three children who died prematurely due to carnitine-acylcarnitine translocase deficiency;Taiwanese Journal of Obstetrics and Gynecology;2022-01