" /> beta ketothiolase deficiency - CISMeF





Preferred Label : beta ketothiolase deficiency;

MeSH synonym : mitochondrial Acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; alpha-methylacetoaceticaciduria; 2-methyl-3-hydroxybutyricacidemia; 3-ketothiolase deficiency; Alpha-Methylacetoacetic aciduria; 2-Methyl-3-Hydroxybutyric acidemia; Beta-Ketothiolase deficiency; 3-Alpha-Ketothiolase deficiency; 3-Alpha-Ktd deficiency; 3-Alpha-Oxothiolase deficiency; 3-Methylhydroxybutyric acidemia; mitochondrial 2-Methylacetoacetyl-Coa thiolase deficiency - potassium stimulated; T2 deficiency; B-Ketothiolase deficiency; 2-Alpha-Methyl-3-Hydroxybutyricacidemia;

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29/07/2025


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