(Q37229038)

English

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

scientific article published on August 1997

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Statements

scholarly article

1 reference

Europe PubMed Central

19 August 2017

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 (English)

1 reference

Europe PubMed Central

19 August 2017

0 references

author name string

Lundemose JB

1

1 reference

Europe PubMed Central

19 August 2017

Kølvraa S

2

1 reference

Europe PubMed Central

19 August 2017

Gregersen N

3

1 reference

Europe PubMed Central

19 August 2017

Christensen E

4

1 reference

Europe PubMed Central

19 August 2017

Gregersen M

5

1 reference

Europe PubMed Central

19 August 2017

language of work or name

0 references

publication date

1 August 1997

1 reference

Europe PubMed Central

19 August 2017

Journal of Clinical Pathology

1 reference

Europe PubMed Central

19 August 2017

50

1 reference

Europe PubMed Central

19 August 2017

212-217

1 reference

Europe PubMed Central

19 August 2017

4

1 reference

Europe PubMed Central

19 August 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=379629

6 September 2017

A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379629

6 September 2017

Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379629

6 September 2017

Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379629

6 September 2017

Effects of primer-template mismatches on the polymerase chain reaction: human immunodeficiency virus type 1 model studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379629

6 September 2017

Inherited metabolic diseases in the sudden infant death syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379629

6 September 2017

Molecular analysis of medium-chain acyl-CoA dehydrogenase deficiency: a diagnostic approach

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379629

6 September 2017

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=379629

6 September 2017

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=379629

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379629

28 September 2017

Frequency of medium-chain acyl-CoA dehydrogenase deficiency G-985 mutation in sudden infant death syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379629

28 September 2017

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=379629

26 June 2018

Sudden child death and 'healthy' affected family members with 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=379629

26 June 2018

Neonatal onset of medium-chain acyl-CoA dehydrogenase deficiency in two siblings.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379629

26 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=379629

26 June 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=379629

3 September 2018

Biochemical diagnosis of fatty acid oxidation disorders by metabolite analysis of postmortem liver.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379629

3 September 2018

Fatty liver in sudden childhood death. Implications for Reye's syndrome?

1 reference

https://pubmed.ncbi.nlm.nih.gov/9350306

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/9350306

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: report of two siblings

1 reference

https://pubmed.ncbi.nlm.nih.gov/9350306

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequency of the G985 MCAD mutation in the general population

1 reference

https://pubmed.ncbi.nlm.nih.gov/9350306

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequency of G-985 mutation in medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency in sudden infant death syndrome (SIDS)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9350306

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening urine of 3-week-old newborns: lack of association between sudden infant death syndrome and some metabolic disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/9350306

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The frequency of a disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase in sudden infant death syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9350306

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/9350306

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Metabolic disease and sudden, unexpected death in infancy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9350306

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

General (medium-chain) acyl-CoA dehydrogenase deficiency (non-ketotic dicarboxylic aciduria): quantitative urinary excretion pattern of 23 biologically significant organic acids in three cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/9350306

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/MP.50.4.212

1 reference

Europe PubMed Central

19 August 2017

1 reference

Europe PubMed Central

19 August 2017

1 reference

Europe PubMed Central

19 August 2017

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0 references

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