Neonatal sudden death caused by a novel heterozygous mutation in SLC25A20 gene: A case report and brief literature review-Reference-Cited by-同舟云学术

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Neonatal sudden death caused by a novel heterozygous mutation in SLC25A20 gene: A case report and brief literature review

Published:2022-02 Issue: Volume:54 Page:101990
ISSN:1344-6223
Container-title:Legal Medicine
language:en
Short-container-title:Legal Medicine

Author:

Li Xuebo,Zhao Feng,Zhao Zuliang,Zhao Xiangzhong,Meng Hao,Zhang Dianbin,Zhao Shipeng,Ding Mingxia

Publisher

Elsevier BV

Subject

Issues, ethics and legal aspects,Pathology and Forensic Medicine

Reference37 articles.

1. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency;Iacobazzi;Hum Mutat.,2004

2. The mitochondrial carnitine/acylcarnitine carrier: function, structure and physiopathology;Indiveri;Mol Aspects Med.,2011

3. Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature;Vitoria;JIMD reports.,2015

4. Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients;Baruteau;Complementary data, J Inherit Metab Dis.,2014

5. Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review;Yan;Medicine (Baltimore).,2017

Cited by 5 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. Mitochondrial and Proteasome Dysfunction Occurs in the Hearts of Mice Treated with Triazine Herbicide Prometryn;International Journal of Molecular Sciences;2023-10-17

2. Oxaliplatin-induced cardiotoxicity in mice is connected to the changes in energy metabolism in the heart tissue;2023-05-25

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

4. In Silico Analysis of the Structural Dynamics and Substrate Recognition Determinants of the Human Mitochondrial Carnitine/Acylcarnitine SLC25A20 Transporter;International Journal of Molecular Sciences;2023-02-15

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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