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

作者信息

Riudor E, Ribes A, Perez-Cerda C, Arranz J A, Mora J, Yeste D, Castello F, Christensen B, Sovik O

机构信息

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

出版信息

J Inherit Metab Dis. 1995;18(6):748-9. doi: 10.1007/BF02436766.

DOI:10.1007/BF02436766

PMID:8750614

Abstract

摘要

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本文引用的文献

6-Methyluracil excretion in 2-methylacetoacetyl-CoA thiolase deficiency and in two children with an unexplained recurrent ketoacidaemia.

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A coupled assay detecting defects in fibroblast isoleucine degradation distal to enoyl-CoA hydratase: application to 3-oxothiolase deficiency.

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