(Q35200249)

7 August 2017

Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency (English)

1 reference

7 August 2017

1 reference

B J Burri

1

1 reference

7 August 2017

L Sweetman

series ordinal

2

1 reference

7 August 2017

W L Nyhan

series ordinal

3

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 March 1985

1 reference

American Journal of Human Genetics

7 August 2017

1 reference

7 August 2017

37

1 reference

7 August 2017

2

1 reference

7 August 2017

326-337

1 reference

Statistical estimations in enzyme kinetics

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684574

Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684574

Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684574

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684574

Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684574

Beta-methylcrotonic aciduria associated with lactic acidosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684574

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684574

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684574

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684574

Biotin-responsive beta-methylcrotonylglycinuria

13 July 2018

1 reference

12 December 2020

Combined carboxylase defect: biotin-responsiveness in cultured fibroblasts

1 reference

12 December 2020

Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria

1 reference

12 December 2020

A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduria

1 reference

12 December 2020

Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia

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

The neonatal form of biotin-responsive multiple carboxylase deficiency

1 reference

12 December 2020

Biotin-responsive multiple carboxylase deficiency of infantile onset

1 reference

12 December 2020

Two forms of biotin-responsive multiple carboxylase deficiency

1 reference

12 December 2020

Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis

1 reference

12 December 2020

Prenatal administration of biotin in biotin responsive multiple carboxylase deficiency

1 reference

12 December 2020

Mechanism of biotin-responsive combined carboxylase deficiency

1 reference

12 December 2020

Prenatal treatment of biotin responsive multiple carboxylase deficiency

1 reference

12 December 2020

Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset

1 reference

12 December 2020

Deficient biotinidase activity in late-onset multiple carboxylase deficiency

1 reference

12 December 2020

Organic aciduria in neonatal multiple carboxylase deficiency

1 reference

12 December 2020

Deficient liver biotinidase activity in multiple carboxylase deficiency

1 reference

12 December 2020

Biotinidase deficiency in juvenile multiple carboxylase deficiency

1 reference

12 December 2020

Biocytinase, an enzyme concerned with hydrolytic cleavage of biocytin

1 reference

12 December 2020

Identifiers

PMCID

1684574

1 reference

7 August 2017

1 reference