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

समान संसाधन

• 2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways
  द्वारा: Grünert, Sarah C., और अन्य
  प्रकाशित: (2020)
• Nucleotide sequence of human peroxisomal 3-oxoacyl-CoA thiolase.
  द्वारा: Bout, A, और अन्य
  प्रकाशित: (1988)
• Reinvestigation of Peroxisomal 3-Ketoacyl-CoA Thiolase Deficiency: Identification of the True Defect at the Level of d-Bifunctional Protein
  द्वारा: Ferdinandusse, S., और अन्य
  प्रकाशित: (2002)
• Stimulation of hepatic cholesterol biosynthesis by fatty acids. Effects of oleate on cytoplasmic acetoacetyl-CoA thiolase, acetoacetyl-CoA synthetase and hydroxymethylglutaryl-CoA synthase.
  द्वारा: Salam, W H, और अन्य
  प्रकाशित: (1989)
• Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency
  द्वारा: Abdelkreem, Elsayed, और अन्य
  प्रकाशित: (2019)