Octanoic acidemia and octanoylcarnitine excretion with dicarboxylic aciduria due to defective oxidation of medium-chain fatty acids

Author:

Duran Marinus,Mitchell Grant,de Klerk Johannis B.C.,de Jager Jan P.,Hofkamp Marchinus,Bruinvis Lieneke,Ketting Dirk,Saudubray Jean-Marie,Wadman Sybe K.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference28 articles.

1. Long-chain acyl-CoA dehydrogenase deficiency;Hale;Pediatr Res,1983

2. Dicarboxylic aciduria: deficient 1-14C octanoate oxidation and medium-chain acyl-CoA dehydrogenase in fibroblasts;Rhead;Science,1983

3. Low skeletal muscle carnitine concentrations associated with deficiency of butyryl-CoA dehydrogenase activity;Bartlett,1983

4. Systemic carnitine deficiency: a treatable inherited lipid-storage disease presenting as Reye's syndrome;Chapoy;N Engl J Med,1980

5. Hyperinsulinism in infancy: diagnosis by demonstration of abnormal response to fasting hypoglycemia;Stanley;Pediatrics,1976

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