A patient with lethal cardiomyopathy and a carnitine — acylcarnitine translocase deficiency-Reference-Cited by-同舟云学术

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A patient with lethal cardiomyopathy and a carnitine — acylcarnitine translocase deficiency

Published:1995-03 Issue:2 Volume:18 Page:230-232
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Niezen-Koning K. E.,van Spronsen F. J.,Ijlst L.,Wanders R. J. A.,Brivet M.,Duran M.,Reijngoud D. J.,Heymans H. S. A.,Smit G. P. A.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/BF00711775

Reference7 articles.

1. Brivet M, Slama A, Ogier H et al (1994) Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis.J Inher Metab Dis 17: 271?274.

2. Coates PM, Tanaka K (1992) Molecular basis of mitochondrial fatty acid oxidation defects.J Lipid Res 33: 1099?1110.

3. Hale DE, Bennett MJ (1992) Fatty acid oxidation disorders: a new class of metabolic diseases.J Pediatr 121(1): 1?11.

4. Pande SV, Brivet M, Slama A, Demaugre F, Aufrant C, Saudubray JM (1993) Carnitine ? acylcarnitine translocase deficiency with severe hypoglycemia and auriculoventricular block.J Clin Invest 91: 1247?1252.

5. Stanley CA (1987) New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency.Adv Pediatr 34: 59?88.

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1. Ketogenic diets composed of long-chain and medium-chain fatty acids induce cardiac fibrosis in mice;Molecular Metabolism;2023-06

2. Octanoate is differentially metabolized in liver and muscle and fails to rescue cardiomyopathy in CPT2 deficiency;Journal of Lipid Research;2021

3. Fatty Acid beta-Oxidation Defects;2017

4. Carnitine-Acylcarnitine Translocase Deficiency: Experience with Four Cases in Spain and Review of the Literature;JIMD Reports;2014

5. Carnitine-acylcarnitine translocase deficiency: case report and review of the literature;Acta Paediatrica;2007-01-02

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