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3-methylcrotonyl CoA carboxylase 1 deficiency

Known as: MCC1D, 3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency, MCC1 Deficiency 
An autosomal recessive inherited disorder caused by mutations in the MCCC1 or MCCC2 genes. It is characterized by a deficiency in an enzyme that is… Expand
National Institutes of Health

Papers overview

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Highly Cited
2013
Highly Cited
2013
We measured the mRNA and protein expression of the key gluconeogenic enzymes in human liver biopsy specimens and found that only… Expand
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2012
2012
Congenital adrenal hyperplasia (CAH) refers to rare ( 1:10,000), recessively inherited disorders of adrenal steroidogenesis. 21… Expand
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2006
2006
Elucidating the molecular mechanisms that govern synergism is important for the rational engineering of cellulase mixtures. Our… Expand
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Highly Cited
2006
Highly Cited
2006
SummaryNorth Carolina (NC) was the first US state to initiate universal tandem mass spectrometry (MS/MS) newborn screening. This… Expand
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2005
2005
Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder that appears to be the most… Expand
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2003
2003
Summary: Since the addition of tandem mass spectrometry (MS/MS) to the North Carolina Newborn Screening Program, 20 infants with… Expand
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2001
2001
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine… Expand
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1998
1998
Abstract Isolated partial 3-methylcrotonyl-CoA carboxylase (MCC) deficiency has been described to be the cause for a distinct… Expand
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1977
1977
The enzymes 3-methylcrotonyl-CoA carboxylase and propionyl-CoA carboxylase were studied in fibroblasts derived from a patient… Expand
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1977
1977
Summary: The abnormal metabolites 3-hydroxypropionic acid (1.6–4.0 mg/day) and methylcitric acid (3.7–5.8 mg/day) were identified… Expand
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