(Q34553870)

3 August 2017

Complementation analysis of fatty acid oxidation disorders (English)

1 reference

3 August 2017

0 references

A Moon

1

1 reference

PubMed ID

3793932

3 August 2017

W J Rhead

series ordinal

2

1 reference

PubMed ID

3793932

3 August 2017

language of work or name

English

0 references

publication date

1 January 1987

1 reference

Journal of Clinical Investigation

3 August 2017

1 reference

3 August 2017

79

1 reference

3 August 2017

59-64

1 reference

3 August 2017

1

1 reference

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

3 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423985

Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423985

Multiple acyl-Co A dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamide.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423985

Fluorometric assay of proteins in the nanogram range

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423985

Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423985

14C-labeled substrate catabolism by human diploid fibroblasts derived from infants and adults

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423985

Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423985

The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423985

Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423985

Recurrent Hypoglycemia Associated with Glutaric Aciduria Type II in an Adult

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423985

Ethylmalonic-adipic aciduria. In vivo and in vitro studies indicating deficiency of activities of multiple acyl-CoA dehydrogenases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423985

Glutaric aciduria type II: Report on a previously undescribed metabolic disorder

7 July 2018

1 reference

12 December 2020

Biochemical studies in a patient with defects in the metabolism of acyl‐CoA and sarcosine: Another possible case of glutaric aciduria type II

1 reference

12 December 2020

Neonatal glutaric aciduria type II: an X-linked recessive inherited disorder

1 reference

12 December 2020

Glutaric acidemia type II: clinical, biochemical, and morphologic considerations

1 reference

12 December 2020

Dicarboxylic aciduria: deficient [1-14C]octanoate oxidation and medium-chain acyl-CoA dehydrogenase in fibroblasts

1 reference

12 December 2020

The urinary excretion of ethylmalonic acid: What level requires further attention?

1 reference

12 December 2020

Glutaric acidaemia type II (multiple acyl-CoA dehydrogenation deficiency)

1 reference

12 December 2020

Sex hormone-binding globulin--still many questions

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI112808

1 reference

3 August 2017

1 reference

3 August 2017

1 reference

PubMed ID

3793932