Isovaleryl-CoA dehydrogenase deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
Isovaleric acidemia (IVA) is an inborn error of metabolism caused by deficiency of isovaleryl-CoA dehydrogenase.
|
31707166 |
2020 |
Isovaleryl-CoA dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This biochemical phenotype resembles isovaleric acidemia and is caused by an exonic splice mutation in Ivd leading to partial skipping of exon 10 and IVD protein deficiency.
|
30709776 |
2019 |
Isovaleryl-CoA dehydrogenase deficiency
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Mild inborn errors of metabolism in commonly used inbred mouse strains.
|
30709776 |
2019 |
Isovaleryl-CoA dehydrogenase deficiency
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.
|
27904153 |
2017 |
Isovaleryl-CoA dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.
|
27904153 |
2017 |
Isovaleryl-CoA dehydrogenase deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.
|
27904153 |
2017 |
Isovaleryl-CoA dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants.
|
28535199 |
2017 |
Isovaleryl-CoA dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
|
27629047 |
2016 |
Isovaleryl-CoA dehydrogenase deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Angelman syndrome and isovaleric acidemia: What is the link?
|
26937393 |
2015 |
Isovaleryl-CoA dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study, we searched for IVD mutations in five Japanese patients with IVA (neonatal type, two patients; chronic intermittent type, two patients; and mild biochemical type, one patient).
|
26018748 |
2015 |
Isovaleryl-CoA dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia.
|
26018748 |
2015 |
Isovaleryl-CoA dehydrogenase deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Isovaleric acidemia presenting as diabetic ketoacidosis: a case report.
|
24637313 |
2014 |
Isovaleryl-CoA dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates.
|
24516753 |
2014 |
Isovaleryl-CoA dehydrogenase deficiency
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
An atlas of genetic influences on human blood metabolites.
|
24816252 |
2014 |
Isovaleryl-CoA dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia.
|
25220015 |
2014 |
Isovaleryl-CoA dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Isovaleric acidemia presenting as diabetic ketoacidosis: a case report.
|
24637313 |
2014 |
Isovaleryl-CoA dehydrogenase deficiency
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Chronic intermittent form of isovaleric aciduria in a 2-year-old boy.
|
24019846 |
2013 |
Isovaleryl-CoA dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia.
|
23063737 |
2013 |
Isovaleryl-CoA dehydrogenase deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Isovaleric acidemia (IVA) is a rare inherited metabolic disease caused by a deficiency in isovaleryl-CoA dehydrogenase (IVD).
|
23587913 |
2013 |
Isovaleryl-CoA dehydrogenase deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
Isovaleric acidemia (IVA) is a rare inherited metabolic disease caused by a deficiency in isovaleryl-CoA dehydrogenase (IVD).
|
23587913 |
2013 |
Isovaleryl-CoA dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Isovaleric acidemia (IVA) is a rare inherited metabolic disease caused by a deficiency in isovaleryl-CoA dehydrogenase (IVD).
|
23587913 |
2013 |
Isovaleryl-CoA dehydrogenase deficiency
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Chronic intermittent form of isovaleric aciduria in a 2-year-old boy.
|
24019846 |
2013 |
Isovaleryl-CoA dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene.
|
22960500 |
2012 |
Isovaleryl-CoA dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
IVA is caused by an autosomal recessive deficiency of isovaleryl-CoA dehydrogenase (IVD) resulting in the accumulation of isovaleryl-CoA and its metabolites.
|
22350545 |
2012 |
Isovaleryl-CoA dehydrogenase deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
IVA is caused by an autosomal recessive deficiency of isovaleryl-CoA dehydrogenase (IVD) resulting in the accumulation of isovaleryl-CoA and its metabolites.
|
22350545 |
2012 |