(Q35202149)

7 August 2017

title

Maple syrup urine disease: branched-chain keto acid decarboxylation in fibroblasts as measured with amino acids and keto acids (English)

1 reference

maple syrup urine disease

7 August 2017

main subject

1 reference

J. Dancis

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A868873

3 August 2022

J. Hutzler

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A868873

3 August 2022

R. P. Cox

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A868873

3 August 2022

language of work or name

English

0 references

publication date

1 May 1977

1 reference

full work available at URL

7 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/868873/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A868873

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/868873/pdf/?tool=EBI

3 August 2022

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A868873

https://europepmc.org/articles/PMC1685304

3 August 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A868873

https://europepmc.org/articles/PMC1685304?pdf=render

3 August 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A868873

American Journal of Human Genetics

3 August 2022

published in

1 reference

7 August 2017

volume

29

1 reference

7 August 2017

issue

3

1 reference

7 August 2017

page(s)

272-279

1 reference

Protein measurement with the Folin phenol reagent

7 August 2017

cites work

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685304

Variant maple syrup urine disease in mother and daughter

13 July 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685304

Hypoxanthine phosphoribosyltransferase activity in intact fibroblasts from patients with X-linked hyperuricemia

13 July 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685304

DETECTION OF THE HETEROZYGOTE IN MAPLE SYRUP URINE DISEASE

13 July 2018

1 reference

12 December 2020

Metabolism of the white blood cells in maple-syrup-urine disease

1 reference

12 December 2020

Rapid diagnosis of maple syrup urine disease (branched chain ketoaciduria) by micro-enzyme assay in leukocytes and fibroblasts

1 reference

12 December 2020

Enzyme activity in classical and variant forms of maple syrup urine disease

1 reference

12 December 2020

Maple Syrup Urine Disease: Analysis of Branched Chain Ketoacid Decarboxylation in Cultured Fibroblasts

1 reference

12 December 2020

Subcellular distribution and cofactor function of human branched chain alpha-ketoacid dehydrogenase in normal and mutant cultured skin fibroblasts

1 reference

12 December 2020

The enzyme defect in maple syrup urine disease (branched chain ketoaciduria)

1 reference

12 December 2020

Identifiers

PMC publication ID

1685304

1 reference

7 August 2017

1 reference