Sudden death with cardiac involvement in a neonate with carnitine-acylcarnitine translocase deficiency
Author:
Funder
National Natural Science Foundation of China
Publisher
Elsevier BV
Reference15 articles.
1. Assignment of the carnitine/acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization;Viggiano;Cytogenet Genome Res,1997
2. Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects;Rubiogozalbo;Mol Aspects Med,2004
3. A deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane;Stanley;N Engl J Med,1992
4. Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency: experience with six patients in Guangdong China;Tang;Clin Chim Acta,2019
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
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