Medium-chain acyl-CoA dehydrogenase deficiency in two siblings with a Reye-like syndrome

Author:

Bougnères Pierre F.,Rocchiccioli Francis,Kølvraa Steve,Hadchouel Michèle,Lalau-Keraly Jean,Chaussain J.-L.,Wadman Sybe K.,Gregersen Niels

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference21 articles.

1. Medium-chain acyl-CoA dehydrogenase deficiency: Apparent Km and Vmax values for fibroblast acyl-CoA dehydrogenase toward octanoyl-CoA in patient and control cell lines;Gregersen;J Inher Metab Dis,1984

2. Glutamate dehydrogenase: UV-assay;Schmidt,1974

3. Microdetermination of 2-ketoglutaric acid in plasma and cerebrospinal fluid by capillary gas chromatography-mass spectrometry: Application to pediatrics;Rocchiccioli;Biomed Mass Spectrom,1984

4. An improved and simplified radioisotopic assay for the determination of free and esterified carnitine;McGarry;J Lipid Res,1976

5. Ultrastructural abnormalities of liver cells in Reye syndrome;Iancu;Hum Pathol,1977

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1. Screening for medium-chain acyl CoA dehydrogenase deficiency: current perspectives;Research and Reports in Neonatology;2016-01

2. Mitochondrial Hepatopathies;Nelson Textbook of Pediatrics;2011

3. Disorders of the Metabolism of Amino Acids and Related Compounds;Genetic Disorders and the Fetus;2010-09-24

4. Reye-Syndrom;Pädiatrie;2003

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