3-methylcrotonyl CoA carboxylase 1 deficiency
|
0.730 |
GeneticVariation
|
disease |
CLINVAR |
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.
|
27601257 |
2016 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.
|
27601257 |
2016 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
0.730 |
Biomarker
|
disease |
CLINGEN |
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.
|
27601257 |
2016 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
0.730 |
Biomarker
|
disease |
BEFREE |
An important emerging insight from this human MCCA transcriptome in combination with previous reports is that chronic exposure to the primary and secondary metabolites of MCC deficiency and the resulting oxidative stress might impact adversely on the quality of life and energy levels, irrespective of whether MCC deficient individuals are clinically affected or asymptomatic.
|
27417235 |
2016 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency.
|
25382614 |
2015 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
0.730 |
Biomarker
|
disease |
CLINGEN |
Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency.
|
25382614 |
2015 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.
|
25356967 |
2015 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
0.730 |
GeneticVariation
|
disease |
CLINVAR |
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.
|
25356967 |
2015 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
An atlas of genetic influences on human blood metabolites.
|
24816252 |
2014 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
[Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency].
|
24078573 |
2013 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.
|
22264772 |
2012 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
|
22642865 |
2012 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.
|
22264772 |
2012 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
0.730 |
GermlineCausalMutation
|
disease |
ORPHANET |
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
|
22642865 |
2012 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
|
22642865 |
2012 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.
|
22264772 |
2012 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
0.730 |
GeneticVariation
|
disease |
CLINVAR |
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
|
22642865 |
2012 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency.
|
22150417 |
2012 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
0.730 |
GermlineCausalMutation
|
disease |
ORPHANET |
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.
|
22264772 |
2012 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria.
|
21071250 |
2011 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.
|
17968484 |
2007 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
|
16835865 |
2006 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
|
16835865 |
2006 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.
|
16010683 |
2005 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.
|
16010683 |
2005 |