(Q42283564)

English

Medium-chain acyl-CoA dehydrogenase deficiency does not correlate with apparent life-threatening events and the sudden infant death syndrome: results from phenylpropionate loading tests and DNA analysis

scientific article published on May 1994

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

19 October 2017

Medium-chain acyl-CoA dehydrogenase deficiency does not correlate with apparent life-threatening events and the sudden infant death syndrome: results from phenylpropionate loading tests and DNA analysis (English)

1 reference

Europe PubMed Central

PubMed publication ID

19 October 2017

medium chain acyl-CoA dehydrogenase deficiency

0 references

sudden infant death syndrome

1 reference

based on heuristic

inferred from title

apparent life-threatening event syndrome

1 reference

based on heuristic

inferred from title

author name string

J M Penzien

1

1 reference

Europe PubMed Central

PubMed publication ID

19 October 2017

G Molz

2

1 reference

Europe PubMed Central

PubMed publication ID

19 October 2017

U N Wiesmann

3

1 reference

Europe PubMed Central

PubMed publication ID

19 October 2017

J P Colombo

4

1 reference

Europe PubMed Central

PubMed publication ID

19 October 2017

R Bühlmann

5

1 reference

Europe PubMed Central

PubMed publication ID

19 October 2017

B Wermuth

6

1 reference

Europe PubMed Central

PubMed publication ID

19 October 2017

publication date

1 May 1994

1 reference

Europe PubMed Central

PubMed publication ID

19 October 2017

European Journal of Pediatrics

1 reference

Europe PubMed Central

PubMed publication ID

19 October 2017

153

1 reference

Europe PubMed Central

PubMed publication ID

19 October 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

19 October 2017

352-357

1 reference

Europe PubMed Central

PubMed publication ID

19 October 2017

Medium chain acyl-CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8033926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8033926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain Acyl-CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8033926

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/8033926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sudden infant death syndrome: organic acid profiles in cerebrospinal fluid from 47 children and the occurrence of N-acetylaspartic acid

1 reference

https://pubmed.ncbi.nlm.nih.gov/8033926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simple screening test for medium-chain acyl CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8033926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Organic acids in urine: sample preparation for GC/MS

1 reference

https://pubmed.ncbi.nlm.nih.gov/8033926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tissue extraction of DNA and RNA and analysis by the polymerase chain reaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/8033926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation of genomic DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/8033926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Determination of alcohol dehydrogenase genotype: no correlation between isoenzyme pattern and liver cirrhosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8033926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Post-mortem recognition of inherited metabolic disorders from specific acylcarnitines in tissue in cases of sudden infant death

1 reference

https://pubmed.ncbi.nlm.nih.gov/8033926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/8033926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8033926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8033926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Medium chain acyl CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8033926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defects of metabolism of fatty acids in the sudden infant death syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8033926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherited metabolic diseases in the sudden infant death syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8033926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Acyl coenzyme A dehydrogenase deficiency of medium-chain fatty acids in a 9-year-old boy with adymia. A rare mitochondrial cytopathy which may be more common than previously assumed

1 reference

https://pubmed.ncbi.nlm.nih.gov/8033926

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/8033926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deficiency of medium chain fatty acylcoenzyme A dehydrogenase presenting as the sudden infant death syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8033926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An hepatic metabolic profile in sudden infant death (SIDS)

1 reference

https://pubmed.ncbi.nlm.nih.gov/8033926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8033926

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/8033926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition

1 reference

https://pubmed.ncbi.nlm.nih.gov/8033926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8033926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Acylcoenzyme A dehydrogenase deficiency in heart tissue from infants who died unexpectedly with fatty change in the liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/8033926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations causing medium-chain acyl-CoA dehydrogenase deficiency: a collaborative compilation of the data from 172 patients. Workshop on Molecular Aspects of MCAD Deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8033926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Medium-chain acyl-coenzyme A dehydrogenase deficiency and sudden infant death

1 reference

https://pubmed.ncbi.nlm.nih.gov/8033926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8033926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S004310050152

1 reference

Europe PubMed Central

PubMed publication ID

19 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

19 October 2017

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