2-Methylbutyryl-CoA Dehydrogenase Deficiency
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
2-Methylbutyryl-CoA Dehydrogenase Deficiency
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.
|
20547083 |
2010 |
2-Methylbutyryl-CoA Dehydrogenase Deficiency
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.
|
20547083 |
2010 |
2-Methylbutyryl-CoA Dehydrogenase Deficiency
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.
|
20547083 |
2010 |
2-Methylbutyryl-CoA Dehydrogenase Deficiency
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.
|
20547083 |
2010 |
2-Methylbutyryl-CoA Dehydrogenase Deficiency
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism.
|
17945527 |
2008 |
2-Methylbutyryl-CoA Dehydrogenase Deficiency
|
0.700 |
Biomarker
|
disease |
CLINGEN |
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism.
|
17945527 |
2008 |
2-Methylbutyryl-CoA Dehydrogenase Deficiency
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism.
|
17945527 |
2008 |
2-Methylbutyryl-CoA Dehydrogenase Deficiency
|
0.700 |
Biomarker
|
disease |
CLINGEN |
2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report.
|
17883863 |
2007 |
2-Methylbutyryl-CoA Dehydrogenase Deficiency
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.
|
16317551 |
2006 |
2-Methylbutyryl-CoA Dehydrogenase Deficiency
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.
|
16317551 |
2006 |
2-Methylbutyryl-CoA Dehydrogenase Deficiency
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation.
|
15615815 |
2005 |
2-Methylbutyryl-CoA Dehydrogenase Deficiency
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation.
|
15615815 |
2005 |
2-Methylbutyryl-CoA Dehydrogenase Deficiency
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.
|
12837870 |
2003 |
2-Methylbutyryl-CoA Dehydrogenase Deficiency
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism.
|
10832746 |
2000 |
2-Methylbutyryl-CoA Dehydrogenase Deficiency
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism.
|
11013134 |
2000 |
2-Methylbutyryl-CoA Dehydrogenase Deficiency
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
2-Methylbutyryl-CoA Dehydrogenase Deficiency
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|