Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency

Author:

Riudor E.,Ribes A.,Pérez-Cerdá C.,Arranz J. A.,Mora J.,Yeste D.,Castelló F.,Christensen B.,Søvik O.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference4 articles.

1. Cromby CH, Manning NJ, Pollitt RJ, Powell S, Bennett MJ (1994) 6-Methyluracil excretion in 2-methylacetoacetyl-CoA thiolase deficiency and in two children with an unexplained ketoacidaemia.J Inher Metab Dis 17: 81–84.

2. Gibson KM, Lee CF, Kamali V, Søvik O (1992) A coupled assay detecting defects in fibroblast isoleucine degradation distal to enoyl-CoA hydratase: applications to 3-oxothiolase deficiency.Clin Chim Acta 205: 127–135.

3. Saudubray JM, Charpentier C (1995) Clinical phenotypes: diagnosis/algorithms. In Scriver CR, Beaudet A, Sly WS, Valle DV, eds.The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 327–400.

4. Sweetman L, Williams JC (1995) Branched chain organic acidurias. In Scriver CR, Beaudet A, Sly WS, Valle DV, eds.The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1387–1422.

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