Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
|
29519241 |
2018 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts.
|
27943070 |
2017 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.
|
27856190 |
2016 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.800 |
GeneticVariation
|
CLINVAR |
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
|
27477829 |
2016 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.
|
20434380 |
2010 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.
|
20036593 |
2010 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Protein sequences encode safeguards against aggregation.
|
19156839 |
2009 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening.
|
18450854 |
2008 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.
|
16291504 |
2006 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.
|
11349232 |
2001 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular and functional characterisation of mild MCAD deficiency.
|
11409868 |
2001 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency.
|
11486912 |
2001 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
|
10767181 |
2000 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
|
10767181 |
2000 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site.
|
9882619 |
1999 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
|
9158144 |
1997 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.
|
7603790 |
1995 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.
|
8198141 |
1994 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.
|
7929823 |
1994 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.
|
1363805 |
1992 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.
|
1684086 |
1991 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Frequency of the G985 MCAD mutation in the general population.
|
1671131 |
1991 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli.
|
1902818 |
1991 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.
|
2251268 |
1990 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
|
2393404 |
1990 |