(Q37021440)

English

Inherited methylmalonyl CoA mutase apoenzyme deficiency in human fibroblasts: evidence for allelic heterogeneity, genetic compounds, and codominant expression

scientific article published on March 1980

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Inherited methylmalonyl CoA mutase apoenzyme deficiency in human fibroblasts: evidence for allelic heterogeneity, genetic compounds, and codominant expression (English)

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

1 reference

based on heuristic

inferred from title

author name string

Willard HF

1

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Rosenberg LE

2

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

language of work or name

0 references

publication date

1 March 1980

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Journal of Clinical Investigation

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

65

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

3

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

690-698

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Congenital methylmalonic acidemia: enzymatic evidence for two forms of the disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371411

29 September 2017

Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371411

29 September 2017

Methylmalonicacidemia: biochemical heterogeneity in defects of 5'-deoxyadenosylcobalamin synthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371411

29 September 2017

Protein mediated vitamin uptake. Adsorptive endocytosis of the transcobalamin II-cobalamin complex by cultured human fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371411

29 September 2017

Genetic and biochemical analysis of human cobalamin mutants in cell culture

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371411

29 September 2017

Studies of Methylmalonyl Coenzyme A Carbonylmutase Activity in Methylmalonic Acidemia. I. Correlation of Clinical, Hepatic, and Fibroblast Data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371411

29 September 2017

Inborn errors of cobalamin metabolism: Effect of cobalamin supplementation in culture on methylmalonyl CoA mutase activity in normal and mutant human fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371411

29 September 2017

A new variant of methylmalonic acidemia-defective coenzyme-apoenzyme binding in cultured fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371411

29 September 2017

Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371411

29 September 2017

Methylmalonyl-CoA mutase activity of leukocytes in variants and heterozygotes of methylmalonic acidemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371411

29 September 2017

Inherited deficiencies of human methylmalonyl CaA mutase activity: reduced affinity of mutant apoenzyme for adenosylcobalamin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371411

29 September 2017

Studies of methylmalonyl-coenzyme A carbonylmutase activity in methylmalonic acidemia. II. In vitro binding kinetics with adenosylcobalamin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371411

29 September 2017

Cobalamins in Fibroblasts Cultured from Normal Control Subjects and Patients with Methylmalonic Aciduria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371411

29 September 2017

Fluorometric assay of proteins in the nanogram range

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371411

27 June 2018

Methylmalonyl coenzyme A racemase defect: another cause of methylmalonic aciduria.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371411

27 June 2018

Improved techniques for the extraction and chromatography of cobalamins

1 reference

https://pubmed.ncbi.nlm.nih.gov/6101601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: a sensitive assay using cultured cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/6101601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI109715

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

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