(Q28364785)

English

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

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scholarly article

1 reference

Europe PubMed Central

4 July 2017

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 (English)

1 reference

Europe PubMed Central

4 July 2017

Brage Storstein Andresen

1

1 reference

Europe PubMed Central

4 July 2017

author name string

S F Dobrowolski

2

1 reference

Europe PubMed Central

4 July 2017

L O'Reilly

3

1 reference

Europe PubMed Central

4 July 2017

J Muenzer

4

1 reference

Europe PubMed Central

4 July 2017

S E McCandless

5

1 reference

Europe PubMed Central

4 July 2017

D M Frazier

6

1 reference

Europe PubMed Central

4 July 2017

S Udvari

7

1 reference

Europe PubMed Central

4 July 2017

P Bross

8

1 reference

Europe PubMed Central

4 July 2017

I Knudsen

9

1 reference

Europe PubMed Central

4 July 2017

R Banas

10

1 reference

Europe PubMed Central

4 July 2017

D H Chace

11

1 reference

Europe PubMed Central

4 July 2017

P Engel

12

1 reference

Europe PubMed Central

4 July 2017

E W Naylor

13

1 reference

Europe PubMed Central

4 July 2017

N Gregersen

14

1 reference

Europe PubMed Central

4 July 2017

language of work or name

0 references

publication date

8 May 2001

1 reference

Europe PubMed Central

4 July 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

4 July 2017

68

1 reference

Europe PubMed Central

4 July 2017

1408-1418

1 reference

Europe PubMed Central

4 July 2017

6

1 reference

Europe PubMed Central

4 July 2017

Crystal structures of medium-chain acyl-CoA dehydrogenase from pig liver mitochondria with and without substrate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226127

20 March 2017

Structural organization and regulatory regions of the human medium-chain acyl-CoA dehydrogenase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226127

20 March 2017

A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226127

29 September 2017

Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226127

29 September 2017

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=1226127

29 September 2017

Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226127

29 September 2017

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=1226127

29 September 2017

Rhabdomyolysis and acute encephalopathy in late onset 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=1226127

29 September 2017

Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226127

29 September 2017

Molecular characterization of inherited 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=1226127

29 September 2017

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=1226127

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226127

2 June 2018

Impaired folding and subunit assembly as disease mechanism: the example of 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=1226127

2 June 2018

Rett syndrome in a patient with 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=1226127

2 June 2018

Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226127

2 June 2018

Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226127

2 June 2018

Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226127

2 June 2018

An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226127

2 June 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=1226127

27 November 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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226127

27 November 2018

A silent A to G mutation in exon 11 of 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=1226127

27 November 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=1226127

27 November 2018

Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226127

27 November 2018

Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/11349232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An acyl-coenzyme A dehydrogenase assay utilizing the ferricenium ion

1 reference

https://pubmed.ncbi.nlm.nih.gov/11349232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/11349232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: The Prevalent Mutation G985 (K304E) Is Subject to a Strong Founder Effect from Northwestern Europe

1 reference

https://pubmed.ncbi.nlm.nih.gov/11349232

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/11349232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/11349232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterozygosity for the common LCHAD mutation (1528g>C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low

1 reference

https://pubmed.ncbi.nlm.nih.gov/11349232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Europe PubMed Central

4 July 2017

1 reference

Europe PubMed Central

4 July 2017

1 reference

Europe PubMed Central

4 July 2017

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