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Deficiency of acetyl-CoA acetyltransferase

Known as: 3-Methylhydroxybutyric Acidemia, Beta ketothiolase deficiency, 3-KTD DEFICIENCY 
A rare autosomal recessive inherited disorder caused by mutations in the ACAT1 gene. It is characterized by the reduction or elimination of the… 
National Institutes of Health

Papers overview

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2014
2014
Herein we report six new coordination polymers [Co(1,2-pda)(1,2-bix)]n (1a), [Co(hfipbb)(1,2-bix)]n·nH2O (2a), [Co(ADA)(1,2-bix… 
Highly Cited
2005
Highly Cited
2005
(0.95−x)(Bi1∕2Na1∕2)TiO3–x(Bi1∕2K1∕2)TiO3–0.05BaTiO3 lead-free piezoelectric ceramics (abbreviated as BNT–BKT–BT100x with x… 
1990
1990
ABSTRACT: Cultured fibroblasts from 13 patients with organic aciduria suggesting 3-oxothiolase deficiency were studied by… 
1988
1988
An extensive study of the thermodynamics of a two-dimensional periodic array of ultrasmall Josephson junctions with and without a… 
1984
1984
We describe an isocratic cation-exchange chromatographic technique, with ultraviolet detection, for determination of urinary… 
1979
1979
Abstract. A new case of assumed β‐ketothiolase deficiency, excreting 2‐methyl‐3‐hydroxybutyrate and tiglylglycine is described in…