(Q40064912)

17 September 2017

title

Heterogeneity in maple syrup urine disease: Aspects of cofactor requirement and complementation in cultured fibroblasts (English)

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1977.TB01313.X

3-methyl-2-oxobutyric acid

28 December 2022

main subject

1 reference

maple syrup urine disease

ChEBI release 2020-05-28

ChEBI ID

16530

1 reference

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1977.TB01313.X

28 December 2022

author name string

S. Singh

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A192504

28 December 2022

I. Willers

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A192504

28 December 2022

H. W. Goedde

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A192504

28 December 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=192504

28 December 2022

publication date

1 April 1977

1 reference

full work available at URL

17 September 2017

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.1977.tb01313.x

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1977.TB01313.X

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1977.tb01313.x/fullpdf

28 December 2022

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1977.TB01313.X

28 December 2022

1 reference

17 September 2017

volume

11

1 reference

17 September 2017

issue

4

1 reference

17 September 2017

page(s)

277-284

1 reference

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

17 September 2017

cites work

2

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1977.TB01313.X

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

28 December 2022

3

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1977.TB01313.X

Classical maple syrup urine disease: cofactor resistance.

28 December 2022

4

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1977.TB01313.X

Maple Syrup Urine Disease: Coenzyme function and prenatal monitoring

28 December 2022

5

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1977.TB01313.X

Studies on maple syrup disease in 2 families

28 December 2022

7

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1977.TB01313.X

Branched-chain alpha-keto acids isolated as oxime derivatives: relationship to the corresponding hydroxy acids and amino acids in maple syrup urine disease

28 December 2022

11

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1977.TB01313.X

Protein measurement with the Folin phenol reagent

28 December 2022

12

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1977.TB01313.X

Complementation Analysis of Maple Syrup Urine Disease in Heterokaryons derived from Cultured Human Fibroblasts

28 December 2022

13

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1977.TB01313.X

A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance.

28 December 2022

14

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1977.TB01313.X

A simplified method for the preparation of 14 C-labelled branched-chain -oxo acids

28 December 2022

17

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1977.TB01313.X

Defective decarboxylase in branched chain ketoacid oxidase multienzyme complex in classic type of maple syrup urine disease

28 December 2022

18

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1977.TB01313.X

Thiamine-responsive maple-syrup-urine disease

28 December 2022

19

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1977.TB01313.X

5-Ethyl-2'-deoxyuridine: absence of effects on the chromosomes of human lymphocytes and fibroblasts in culture

28 December 2022

20

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1977.TB01313.X

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

28 December 2022

22

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1977.TB01313.X

28 December 2022

Identifiers

0 references

1 reference