Carnitine-Acylcarnitine Translocase Deficiency

Known as: Carnitine-Acylcarnitine Carrier Deficiency, CACTD, CACT Deficiency 
 

Topic mentions per year

Topic mentions per year

1990-2018
024619902018

Papers overview

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2017
2017
Carnitine-acylcarnitine translocase (CACT) deficiency is a rare long-chain fatty acid oxidation disorder (LC-FAOD) with high… (More)
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2015
2015
BACKGROUND Mitochondrial fatty acid oxidation (FAO) disorders are among the causes of acute encephalopathy- or myopathy-like… (More)
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Review
2015
Review
2015
BACKGROUND Carnitine-acylcarnitine translocase (CACT) deficiency is a rare autosomal recessive disease in the mitochondrial… (More)
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2010
2010
Carnitine-acylcarnitine translocase (CACT) deficiency (McKusick 212138) is a rare life threatening disorder characterized by… (More)
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2007
2007
Carnitine–acylcarnitine translocase (CACT) deficiency is a rare disorder that results in long-chain fatty acids being unavailable… (More)
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2004
2004
The enzyme carnitine-acylcarnitine translocase (CACT) is involved in the transport of long-chain fatty acids into mitochondria… (More)
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2004
2004
Deficiency of carnitine/acylcarnitine translocase (CACT) is an autosomal recessive disorder of the carnitine cycle resulting in… (More)
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2001
2001
This report describes three infants with genetic defects of carnitine-acylcarnitine translocase (CACT), an inner mitochondrial… (More)
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2001
2001
Carnitine-acylcarnitine translocase (CACT) deficiency is an inherited defect of the co-transport of free and esterified carnitine… (More)
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2001
2001
The neonatal phenotype of carnitine-acylcarnitine translocase (CACT) deficiency is one of the most severe and usually lethal… (More)
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