(Q34258362)

English

A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report

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scholarly article

1 reference

Europe PubMed Central

31 July 2017

A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report (English)

1 reference

Europe PubMed Central

31 July 2017

medium chain acyl-CoA dehydrogenase deficiency

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Karine Mention-Mulliez

9

object named as

Karine Mention-Mulliez

1 reference

Europe PubMed Central

31 July 2017

Ronald J A Wanders

14

object named as

Ronald J A Wanders

1 reference

Europe PubMed Central

31 July 2017

author name string

Anne-Frédérique Dessein

1

1 reference

Europe PubMed Central

31 July 2017

Monique Fontaine

2

1 reference

Europe PubMed Central

31 July 2017

Brage S Andresen

3

1 reference

Europe PubMed Central

31 July 2017

Niels Gregersen

4

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Europe PubMed Central

31 July 2017

Michèle Brivet

5

1 reference

Europe PubMed Central

31 July 2017

Daniel Rabier

6

1 reference

Europe PubMed Central

31 July 2017

Silvia Napuri-Gouel

7

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Europe PubMed Central

31 July 2017

Dries Dobbelaere

8

1 reference

Europe PubMed Central

31 July 2017

Annie Martin-Ponthieu

10

1 reference

Europe PubMed Central

31 July 2017

Gilbert Briand

11

1 reference

Europe PubMed Central

31 July 2017

David S Millington

12

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Europe PubMed Central

31 July 2017

Christine Vianey-Saban

13

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Europe PubMed Central

31 July 2017

Joseph Vamecq

15

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Europe PubMed Central

31 July 2017

language of work or name

1 reference

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inferred from title

publication date

5 October 2010

1 reference

Europe PubMed Central

31 July 2017

Orphanet Journal of Rare Diseases

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Europe PubMed Central

31 July 2017

5

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Europe PubMed Central

31 July 2017

26

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31 July 2017

https://scigraph.springernature.com/pub.10.1186/1750-1172-5-26

0 references

Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967532

6 July 2018

Mitochondrial fatty-acid oxidation disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967532

6 July 2018

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967532

6 July 2018

Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967532

6 July 2018

Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship

1 reference

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6 July 2018

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 res

1 reference

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6 July 2018

Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK.

1 reference

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6 July 2018

Molecular basis of hepatic carnitine palmitoyltransferase I deficiency

1 reference

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6 July 2018

Fatty acid oxidation disorders as primary cause of sudden and unexpected death in infants and young children: an investigation performed on cultured fibroblasts from 79 children who died aged between 0-4 years

1 reference

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6 July 2018

Acylcarnitine removal in a patient with acyl-CoA beta-oxidation deficiency disorder: effect of L-carnitine therapy and starvation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967532

6 July 2018

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967532

6 July 2018

Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967532

6 July 2018

A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967532

6 July 2018

Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967532

6 July 2018

The inborn errors of mitochondrial fatty acid oxidation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967532

6 July 2018

Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and its expression in enzyme-deficient human tissue

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967532

6 July 2018

Biochemical contribution to diagnosis and study of a new case of D-glyceric acidemia/aciduria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967532

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967532

6 July 2018

Molecular basis of mitochondrial fatty acid oxidation defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967532

6 July 2018

Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967532

6 July 2018

Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967532

6 July 2018

Deuterated palmitate-driven acylcarnitine formation by whole-blood samples for a rapid diagnostic exploration of mitochondrial fatty acid oxidation disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967532

28 October 2018

Mitochondrial fatty acid oxidation defects--remaining challenges.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967532

28 October 2018

Detection of urinary hexanoylglycine in the diagnosis of MCAD deficiency from newborn screening

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967532

28 October 2018

Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967532

28 October 2018

Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967532

28 October 2018

Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967532

28 October 2018

The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967532

28 October 2018

The sudden infant death syndrome gene: does it exist?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967532

28 October 2018

Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G>C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging fro

1 reference

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28 October 2018

Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency

1 reference

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28 October 2018

Molecular and functional characterisation of mild MCAD deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967532

28 October 2018

Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967532

28 October 2018

The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967532

28 October 2018

A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evol

1 reference

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28 October 2018

Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967532

28 October 2018

In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase

1 reference

https://pubmed.ncbi.nlm.nih.gov/20923556

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biosynthesis of variant medium chain acyl-CoA dehydrogenase in cultured fibroblasts from patients with medium chain acyl-CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/20923556

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purification of electron transfer flavoprotein from pig liver mitochondria and its application to the diagnosis of deficiencies of acyl-CoA dehydrogenases in human fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/20923556

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Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid β-oridation

1 reference

https://pubmed.ncbi.nlm.nih.gov/20923556

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Impaired tetramer assembly of variant medium-chain acyl-coenzyme A dehydrogenase with a glutamate or aspartate substitution for lysine 304 causing instability of the protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/20923556

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intramitochondrial folding and assembly of medium-chain acyl-CoA dehydrogenase (MCAD). Demonstration of impaired transfer of K304E-variant MCAD from its complex with hsp60 to the native tetramer

1 reference

https://pubmed.ncbi.nlm.nih.gov/20923556

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme

1 reference

https://pubmed.ncbi.nlm.nih.gov/20923556

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid diagnosis of long chain and medium chain fatty acid oxidation disorders using lymphocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/20923556

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1186/1750-1172-5-26

1 reference

Europe PubMed Central

31 July 2017

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1 reference

Europe PubMed Central

31 July 2017

1 reference

Europe PubMed Central

31 July 2017

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