Methylmalonic acidaemia due to mutase apoenzyme defect: Responsive to vitamin B 12 in intact fibroblasts but not in vivo (Q72551182)

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27 October 2019

title

Methylmalonic acidaemia due to mutase apoenzyme defect: responsive to vitamin B12 in intact fibroblasts but not in vivo (English)

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https://api.crossref.org/works/10.1007/BF01800166

27 October 2019

Methylmalonic acidaemia due to mutase apoenzyme defect: Responsive to vitamin B 12 in intact fibroblasts but not in vivo (English)

1 reference

11 August 2023

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https://api.crossref.org/works/10.1007/BF01800166

11 August 2023

author name string

R. Baumgartner

1

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11 August 2023

O. Giardini

2

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11 August 2023

A. Cantani

3

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11 August 2023

G. Sabetta

4

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11 August 2023

M. Castro

5

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11 August 2023

language of work or name

English

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National Center for Biotechnology Information

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11 August 2023

publication date

1 January 1982

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full work available at URL

27 October 2019

https://onlinelibrary.wiley.com/doi/pdf/10.1007/BF01800166

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Journal of Inherited Metabolic Disease

11 August 2023

published in

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27 October 2019

volume

5

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27 October 2019

issue

3

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27 October 2019

page(s)

137-141

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Prevalence of homocystinuria among the mentally retarded: evaluation of a specific screening test

27 October 2019

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

Effect of 2-Methylcitrate on Citrate Metabolism: Implications for the Management of Patients with Propionic acidemia and Methylmalonic aciduria

1 reference

12 December 2020

Genetic and biochemical analysis of human cobalamin mutants in cell culture

1 reference

12 December 2020

An improved radioisotope dilution assay for serum vitamin B12 using hemoglobin-coated charcoal

1 reference

12 December 2020

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

1 reference

12 December 2020

Interactions of methylmalonyl CoA mutase from normal human fibroblasts with adenosylcobalamin and methylmalonyl CoA: evidence for non-equivalent active sites

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. II. Biochemical investigations

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

APPLICATION OF A SIMPLE MICROMETHOD TO THE SCREENING OF PLASMA FOR A VARIETY OF AMINOACIDOPATHIES

1 reference

12 December 2020

A method for the colorimetric determination of urinary methylmalonic acid in pernicious anemia

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01800166

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6133033%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

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