Medium-chain acyl-coenzyme A dehydrogenase deficiency

Known as: ACADM DEFICIENCY, Acyl-CoA dehydrogenase, medium chain, deficiency of, Medium chain acyl CoA dehydrogenase deficiency 
A genetic disorder characterized by deficiency of the enzyme medium-chain acyl-coenzyme A dehydrogenase that metabolizes medium-chain fatty acids… (More)
National Institutes of Health

Papers overview

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Review
2008
Review
2008
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a disorder of mitochondrial fatty acid oxidation that leads to the… (More)
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Highly Cited
1999
Highly Cited
1999
Very-long-chain acyl-CoA dehydrogenase (VLCAD) catalyzes the initial rate-limiting step in mitochondrial fatty acid beta… (More)
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Highly Cited
1995
Highly Cited
1995
Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) was purified from human liver. The molecular masses of the… (More)
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1995
1995
OBJECTIVE We identified two additional patients with short-chain acyl-coenzyme A (CoA), further characterized the clinical and… (More)
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Highly Cited
1994
Highly Cited
1994
Medium-chain acyl-coenzyme A dehydrogenase deficiency is an autosomal recessive disorder of beta-oxidation of fatty acids… (More)
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1994
1994
Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency presents with episodic fasting, hypoketotic hypoglycaemia, and coma… (More)
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Highly Cited
1989
Highly Cited
1989
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most frequently diagnosed defect in fatty acid metabolism and is one… (More)
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1987
1987
A 20-month-old girl with a family history of two siblings who died of an encephalopathy diagnosed as Reye syndrome presented to… (More)
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1986
1986
A family is described in which the father and three (and probably all four) of his children had a decreased capacity for the… (More)
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1985
1985
ABSTRACT: Three children from unrelated families presented in early childhood with hypoglycemia and cardiorespiratory arrests… (More)
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