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

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Journal of Inherited Metabolic Disease

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References

  • 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.

    Article  PubMed  CAS  Google Scholar 

  • 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.

    PubMed  CAS  Google Scholar 

  • 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.

    Google Scholar 

  • 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.

    Google Scholar 

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Authors and Affiliations

  1. Hospital Universitari Materno-Infantil, Vall d'Hebron, Barcelona

    E. Riudor, J. A. Arranz, J. Mora, D. Yeste & F. Castelló

  2. Institut de Bioquímica Clńica, Cerdanyola

    A. Ribes

  3. Centro de Diagnóstico de Enfermedades Moleculares, Madrid, Spain

    C. Pérez-Cerdá

  4. Department of Pediatrics, University Hospital, Bergen, Norway

    B. Christensen & O. Søvik

Authors
  1. E. Riudor
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  2. A. Ribes
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  3. C. Pérez-Cerdá
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  4. J. A. Arranz
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  5. J. Mora
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  6. D. Yeste
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  7. F. Castelló
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  8. B. Christensen
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  9. O. Søvik
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Riudor, E., Ribes, A., Pérez-Cerdá, C. et al. Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency. J Inherit Metab Dis 18, 748–749 (1995). https://doi.org/10.1007/BF02436766

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  • DOI: https://doi.org/10.1007/BF02436766

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