A case of 2-methylacetoacetyl CoA thiolase deficiency with coincidental chromosome abnormalities.

Antzeko izenburuak

• 2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways
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• Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency
  nork: Abdelkreem, Elsayed, et al.
  Argitaratua: (2019)