(Q37006348)

17 August 2017

Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency (English)

1 reference

multiple carboxylase deficiency

17 August 2017

1 reference

B J Burri

1

1 reference

17 August 2017

L Sweetman

series ordinal

2

1 reference

17 August 2017

W L Nyhan

series ordinal

3

1 reference

17 August 2017

language of work or name

English

0 references

publication date

1 December 1981

1 reference

Journal of Clinical Investigation

17 August 2017

1 reference

17 August 2017

68

1 reference

17 August 2017

1491-1495

1 reference

17 August 2017

6

1 reference

Protein measurement with the Folin phenol reagent

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370952

THE ENZYMATIC SYNTHESIS OF PROPIONYL COENZYME A HOLOCARBOXYLASE FROM D-BIOTINYL 5'-ADENYLATE AND THE APOCARBOXYLASE

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370952

Statistical estimations in enzyme kinetics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370952

Beta-methylcrotonic aciduria associated with lactic acidosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370952

Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370952

Biotin-response organicaciduria. Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370952

Biotin-responsive alopecia and developmental regression

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370952

Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370952

The binding of biotin to sepharose-avidin column. Demonstration of the affinity chromatography technique

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=370952

Fatty-acid-responsive alopecia in multiple carboxylase deficiency

27 June 2018

1 reference

12 December 2020

Biotin-Responsive Carboxylase Deficiency Associated with Subnormal Plasma and Urinary Biotin

1 reference

12 December 2020

Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment

1 reference

12 December 2020

A new assay method for biotin in blood, serum, urine, and tissues

1 reference

12 December 2020

Biotin-responsive beta-methylcrotonylglycinuria

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI110402

1 reference

17 August 2017

1 reference

17 August 2017

1 reference