Two novel mutations in mitochondrial acetoacetyl‐CoA thiolase deficiency

Two novel mutations in mitochondrial acetoacetyl‐CoA thiolase deficiency

Summary We report a new patient with acetoacetyl‐CoA thiolase deficiency in whom we found two new missense mutations.

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Veröffentlicht in:Journal of inherited metabolic disease 2005-01, Vol.28 (2), p.235-236
Hauptverfasser: Mrázová, L., Fukao, T., Hálovd, K., Gregová, E., Kohút, V., Přibyl, D., Chrastina, P., Kondo, N., Pospišilová, E.
Format: Artikel
Sprache:eng
Schlagworte:
Acetyl-CoA C-Acetyltransferase - deficiency
Acetyl-CoA C-Acetyltransferase - genetics
Child, Preschool
Genotype
Humans
Infant
Male
Metabolism, Inborn Errors - genetics
Metabolism, Inborn Errors - metabolism
Mitochondria - enzymology
Mutation, Missense
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Beschreibung
Zusammenfassung:Summary We report a new patient with acetoacetyl‐CoA thiolase deficiency in whom we found two new missense mutations.
ISSN:0141-8955
1573-2665
DOI:10.1007/s10545-005-7497-6