Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death-Reference-Cited by-同舟云学术

Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death

Published:1997-08 Issue:2 Volume:131 Page:220-225
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Chalmers Ronald A.,Stanley Charles A.,English Nicholas,Wigglesworth Jonathan S.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference15 articles.

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

2. Carnitine-acylcarnitine translocase deficiency with severe hypoglycaemia and auriculoventricular block;Pande;J Clin Invest,1993

3. Diagnosis of carnitine-acylcarnitine translocase deficiency by complementation analysis;Brivet;J Inher Metab Dis,1994

4. Patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency;Nienzen-Koning;J Inher Metab Dis,1995

5. Carnitine- acylcarnitine translocase deficiency in an infant with a putative long-chain fatty acid β-oxidation defect. Abstracts of the 32nd Annual Symposium, Society for the Study of Inborn Errors of Metabolism;Chalmers,1994

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