×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
29519241
2018
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
CausalMutation
CLINVAR
Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.
28581210
2017
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.
27308838
2017
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
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
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
27477829
2016
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan.
26947917
2016
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
CausalMutation
CLINVAR
Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.
27856190
2016
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
[An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency].
27751224
2016
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
CausalMutation
CLINVAR
Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan.
26947917
2016
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.
27856190
2016
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
CausalMutation
CLINVAR
[An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency].
27751224
2016
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
CausalMutation
CLINVAR
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening.
25940036
2015
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
CausalMutation
CLINVAR
Child Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiency.
26215884
2015
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening.
26223887
2015
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
CausalMutation
CLINVAR
First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China.
25503862
2015
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
CausalMutation
CLINVAR
Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency.
25763512
2015
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening.
25940036
2015
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
CausalMutation
CLINVAR
Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening.
26223887
2015
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
CausalMutation
CLINVAR
Regional differences in the frequency of the c.985A>G ACADM mutation: findings from a meta-regression of genotyping and screening studies.
23574375
2014
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency.
24623196
2014
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
CausalMutation
CLINVAR
A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation.
23810226
2014
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
CausalMutation
CLINVAR
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
25087612
2014
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
CausalMutation
CLINVAR
Prolonged QTc interval in association with medium-chain acyl-coenzyme A dehydrogenase deficiency.
24799540
2014
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants.
24966162
2014
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.
23829193
2014