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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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Highly Cited
2012
Highly Cited
2012
Congenital adrenal hyperplasia (CAH) refers to rare ( 1:10,000), recessively inherited disorders of adrenal steroidogenesis. 21… Expand
Highly Cited
2006
Highly Cited
2006
Elucidating the molecular mechanisms that govern synergism is important for the rational engineering of cellulase mixtures. Our… Expand
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
Highly Cited
2004
Highly Cited
2004
Summary: Since the addition of tandem mass spectrometry (MS/MS) to the North Carolina Newborn Screening Program, 20 infants with… Expand
Highly Cited
2001
Highly Cited
2001
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine… Expand
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Highly Cited
2000
Highly Cited
2000
We analyzed the urinary acylglycine excretion in 26 patients with mitochondrial energy metabolism disorders and in 55 patients… Expand
Highly Cited
1983
Highly Cited
1983
 
Highly Cited
1977
Highly Cited
1977
The enzymes 3-methylcrotonyl-CoA carboxylase and propionyl-CoA carboxylase were studied in fibroblasts derived from a patient… Expand
Highly Cited
1977
Highly Cited
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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