×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
1.000
Biomarker
disease
BEFREE
To evaluate the Dutch newborn screening (NBS) for medium-chain acyl-CoA dehydrogenase (MCAD ) deficiency since 2007, a nationwide retrospective, observational study was performed of clinical, laboratory and epidemiological parameters of patients with MCAD deficiency born between 2007 and 2015.
31012112
2019
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
1.000
GeneticVariation
disease
BEFREE
Medium-chain acyl-CoA dehydrogenase deficiency : Two novel ACADM mutations identified in a retrospective screening.
29350094
2018
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
1.000
GeneticVariation
disease
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
1.000
CausalMutation
disease
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
1.000
GeneticVariation
disease
CLINVAR
Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.
27308838
2017
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
1.000
GeneticVariation
disease
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
1.000
GeneticVariation
disease
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
1.000
GeneticVariation
disease
CLINVAR
Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan.
26947917
2016
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
1.000
GeneticVariation
disease
BEFREE
Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan.
26947917
2016
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
1.000
CausalMutation
disease
CLINVAR
Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.
27856190
2016
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
1.000
GeneticVariation
disease
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
1.000
CausalMutation
disease
CLINVAR
Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan.
26947917
2016
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
1.000
GeneticVariation
disease
CLINVAR
Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.
27856190
2016
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
1.000
CausalMutation
disease
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
1.000
CausalMutation
disease
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
1.000
CausalMutation
disease
CLINVAR
Child Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiency.
26215884
2015
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
1.000
GeneticVariation
disease
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
1.000
GeneticVariation
disease
BEFREE
We report on two siblings with mild MCAD deficiency associated with a novel splice site mutation in the ACADM gene.
26223887
2015
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
1.000
CausalMutation
disease
CLINVAR
First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China.
25503862
2015
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
1.000
CausalMutation
disease
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
1.000
GeneticVariation
disease
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
1.000
CausalMutation
disease
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
1.000
CausalMutation
disease
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
1.000
GeneticVariation
disease
BEFREE
Mutations in the ACADM gene cause MCAD deficiency presenting with life-threatening symptoms during catabolism.
24966162
2014
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
1.000
GeneticVariation
disease
CLINVAR
Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency.
24623196
2014