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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

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11 relations

Broader (2)

Acetyl-CoA C-AcyltransferaseAmino Acid Metabolism, Inborn Errors
Autosomal recessive inheritanceConditions tested for in this newborn screening study:ID:Pt:Bld.dot:NomDehydrationNewborn conditions with equivocal markers:Prid:Pt:Bld.dot:Nom
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Papers overview

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Highly Cited
2014
Highly Cited
2014
Genetic engineering of the green alga Chlorella zofingiensis: a modified norflurazon-resistant phytoene desaturase gene as a dominant selectable marker
The unicellular green alga Chlorella zofingiensis has been proposed as a promising producer of natural astaxanthin, a… Expand
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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
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
2008
Highly Cited
2008
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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2008
2008
A SLIGHT IMPROVEMENT TO GARAEV ’
The conjecture is still open, and the best result to date is due to Solymosi [S], who showed that max(|A + A|, |AA|) ≥ C |A| 14… 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
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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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