Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia (Q28615562)

3 February 2017

title

Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia (English)

1 reference

3 February 2017

1 reference

ChEBI release 2020-05-28

1 reference

1 reference

W. J. Rhead

1

1 reference

3 February 2017

K. Tanaka

series ordinal

2

1 reference

3 February 2017

language of work or name

English

0 references

publication date

1 January 1980

1 reference

Proceedings of the National Academy of Sciences of the United States of America

3 February 2017

published in

1 reference

3 February 2017

volume

77

1 reference

3 February 2017

issue

1

1 reference

3 February 2017

page(s)

580–583

1 reference

Protein measurement with the Folin phenol reagent

3 February 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=348317

Identification of β-hydroxyisovaleric acid in the urine of a patient with isovaleric acidemia

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=348317

Isovaleric acidemia: a new genetic defect of leucine metabolism

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=348317

Subcellular distribution of isocitrate dehydrogenases in neonatal and adult mouse brain.

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=348317

Methylmalonicacidemia: biochemical heterogeneity in defects of 5'-deoxyadenosylcobalamin synthesis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=348317

Metabolism of [1-(14)C] and [2-(14)C] leucine in cultured skin fibroblasts from patients with isovaleric acidemia. Characterization of metabolic defects

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=348317

Acyl-CoA dehydrogenases and electron-transferring flavoprotein

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=348317

Studies on glucosaminidase. 4. The fluorimetric assay of N-acetyl-beta-glucosaminidase

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=348317

The stability of some enzymes in cultured cells

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=348317

Isovaleric acidemia. Clinical features of a new genetic defect of leucine metabolism.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=348317

Mechanism of action of coenzyme B12. Hydrogen transfer in the isomerization of methylmalonyl coenzyme A to succinyl coenzyme A

27 November 2018

1 reference

12 December 2020

Oxidative phosphorylation in mitochondria isolated from human fibroblasts

1 reference

12 December 2020

Possibility of inborn defect in isovalericacidaemia involving altered enzyme specificity rather than total inactivity

1 reference

12 December 2020

Rat liver peroxisomes catalyze the beta oxidation of fatty acids

1 reference

12 December 2020

In Vivo and in Vitro Response of Human Branched Chain α-Ketoacid Dehydrogenase to Thiamine and Thiamine Pyrophosphate

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.77.1.580

0 references

0 references

0 references

1 reference