(Q40918720)

24 September 2017

Absence of branched chain acyl-transferase as a cause of maple syrup urine disease (English)

1 reference

24 September 2017

D J Danner

1

1 reference

24 September 2017

N Armstrong

2

1 reference

24 September 2017

S C Heffelfinger

3

1 reference

24 September 2017

E T Sewell

4

1 reference

24 September 2017

J H Priest

5

1 reference

24 September 2017

L J Elsas

6

1 reference

24 September 2017

language of work or name

English

0 references

publication date

1 March 1985

1 reference

Journal of Clinical Investigation

24 September 2017

1 reference

24 September 2017

75

1 reference

24 September 2017

3

1 reference

24 September 2017

858-860

1 reference

The role of thiamin in maple syrup urine disease

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423615

Identification of specific subunits of highly purified bovine liver branched-chain ketoacid dehydrogenase

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423615

Direct physical evidence for stabilization of branched-chain alpha-ketoacid dehydrogenase by thiamin pyrophosphate

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423615

Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423615

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423615

How mitochondria import proteins from the cytoplasm

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423615

Induction of the branched-chain 2-oxo acid dehydrogenase complex in 3T3-L1 adipocytes during differentiation

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423615

Antibodies to bovine liver branched-chain 2-oxo acid dehydrogenase cross-react with this enzyme complex from other tissues and species

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423615

Classical maple syrup urine disease: cofactor resistance.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423615

Maple syrup disease; isolation and identification of organic acids in the urine

15 June 2018

1 reference

12 December 2020

Thiamine increases the specific activity of human liver branched chain α-ketoacid dehydrogenase

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

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

1 reference

12 December 2020

Stabilization of mammalian liver branched-chain alpha-ketoacid dehydrogenase by thiamin pyrophosphate

1 reference

12 December 2020

Abnormal mRNA for argininosuccinate synthetase in citrullinaemia

1 reference

12 December 2020

Branched-chain ketoacid dehydrogenase activity and growth of normal and mutant human fibroblasts: the effect of branched-chain amino acid concentration in culture medium

1 reference

12 December 2020

Maple syrup urine disease

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI111783

1 reference

24 September 2017

1 reference

24 September 2017

PubMed publication ID

3980729

1 reference