(Q43102350)

13 November 2017

Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis (English)

1 reference

medium chain acyl-CoA dehydrogenase deficiency

13 November 2017

0 references

author name string

Wilson CJ

1

1 reference

13 November 2017

Champion MP

2

1 reference

13 November 2017

Collins JE

3

1 reference

13 November 2017

Clayton PT

4

1 reference

13 November 2017

Leonard JV

5

1 reference

13 November 2017

language of work or name

English

0 references

publication date

1 May 1999

1 reference

Archives of Disease in Childhood

13 November 2017

1 reference

13 November 2017

80

1 reference

13 November 2017

459-462

1 reference

13 November 2017

5

1 reference

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

13 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717923

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717923

Early recognition of metabolic decompensation

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717923

Prevalence of medium-chain acyl-coenzyme A dehydrogenase deficiency in the sudden infant death syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717923

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717923

Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717923

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717923

Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-coA dehydrogenase deficiency.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717923

Fatty infiltration in the liver in medium chain acyl CoA dehydrogenase deficiency

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717923

Medium chain acyl-CoA dehydrogenase deficiency

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717923

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717923

Regional variations in medium-chain acyl-CoA dehydrogenase deficiency

15 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10208954

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Scottish frequency of the common G985 mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene and the role of MCAD deficiency in sudden infant death syndrome (SIDS)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10208954

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10208954

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/ADC.80.5.459

1 reference

13 November 2017

1 reference

13 November 2017

1 reference