Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
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 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening.
|
29350094 |
2018 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
GeneticVariation
|
disease |
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
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.
|
28581210 |
2017 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.
|
27308838 |
2017 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
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 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
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 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan.
|
26947917 |
2016 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan.
|
26947917 |
2016 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.
|
27856190 |
2016 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
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 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan.
|
26947917 |
2016 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.
|
27856190 |
2016 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
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 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening.
|
25940036 |
2015 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Child Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiency.
|
26215884 |
2015 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
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 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
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 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China.
|
25503862 |
2015 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
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 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening.
|
25940036 |
2015 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
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 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
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 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ACADM gene cause MCAD deficiency presenting with life-threatening symptoms during catabolism.
|
24966162 |
2014 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
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 |