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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… Expand
National Institutes of Health

Related topics

Related topics

12 relations
ACAT1, ASN93SERAutosomal recessive inheritanceConditions tested for in this newborn screening study:ID:Pt:Bld.dot:NomDehydration
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Broader (2)

Acetyl-CoA C-AcyltransferaseAmino Acid Metabolism, Inborn Errors

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2012
Highly Cited
2012
Superfluid behaviour of a two-dimensional Bose gas
Two-dimensional Bose fluids—such as liquid-helium films, or confined ultracold atoms—cannot form a condensate, but become… Expand
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Highly Cited
2011
Highly Cited
2011
Observation of scale invariance and universality in two-dimensional Bose gases
The collective behaviour of a many-body system near a continuous phase transition is insensitive to the details of its… Expand
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Highly Cited
2010
Highly Cited
2010
Holographic Berezinskii-Kosterlitz-Thouless transitions.
We find the first example of a quantum Berenzinskii-Kosterlitz-Thouless (BKT) phase transition in two spatial dimensions via… Expand
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Highly Cited
2009
Highly Cited
2009
Observation of a 2D Bose gas: from thermal to quasicondensate to superfluid.
We present experimental results on a Bose gas in a quasi-2D geometry near the Berezinskii, Kosterlitz, and Thouless (BKT… Expand
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Highly Cited
2009
Highly Cited
2009
Quasi-2D XY magnetic properties and slow relaxation in a body centered metal organic network of [Co4] clusters.
Octahedral Co(2+) centers have been connected by mu(3)-OH and mu(2)-OH(2) units forming [Co(4)] clusters which are linked by… Expand
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Highly Cited
2008
Highly Cited
2008
Regulation of carotenoid biosynthetic genes expression and carotenoid accumulation in the green alga Haematococcus pluvialis under nutrient stress conditions.
Haematococcus pluvialis, a green alga, accumulates carotenoids, predominantly astaxanthin, when exposed to stress conditions. In… Expand
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Highly Cited
2006
Highly Cited
2006
Berezinskii–Kosterlitz–Thouless crossover in a trapped atomic gas
Any state of matter is classified according to its order, and the type of order that a physical system can possess is profoundly… Expand
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Highly Cited
1999
Highly Cited
1999
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia
Since 1998, the NSW Newborn Screening Program has used electrospray tandem mass spectrometry (MS/MS) to analyse samples from all… Expand
Highly Cited
1997
Highly Cited
1997
In Vitro Characterization of Astaxanthin Biosynthetic Enzymes*
Escherichia coli strains expressing the marine bacteria (Agrobacterium aurantiacum and Alcaligenes sp. strain PC-1) astaxanthin… Expand
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Highly Cited
1979
Highly Cited
1979
Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia.
In the search for the mechanism by which hyperammonemia complicates propionic and methylmalonic acidemia the effects of a series… Expand
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