(Q34247351)

31 July 2017

title

The natural history of the inherited methylmalonic acidemias (English)

1 reference

31 July 2017

The Natural History of the Inherited Methylmalonic Acidemias (English)

1 reference

https://api.crossref.org/works/10.1056/NEJM198304143081501

11 August 2023

author name string

S. M. Matsui

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6132336

11 August 2023

M. J. Mahoney

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6132336

11 August 2023

L. E. Rosenberg

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6132336

11 August 2023

language of work or name

English

0 references

publication date

1 April 1983

1 reference

31 July 2017

14 April 1983

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=6132336

full work available at URL

11 August 2023

http://www.nejm.org/doi/pdf/10.1056/NEJM198304143081501

1 reference

https://api.crossref.org/works/10.1056/NEJM198304143081501

The New England Journal of Medicine

11 August 2023

published in

1 reference

31 July 2017

volume

308

1 reference

31 July 2017

issue

15

1 reference

31 July 2017

page(s)

857-861

1 reference

Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis

31 July 2017

cites work

1

1 reference

https://api.crossref.org/works/10.1056/NEJM198304143081501

Methylmalonic aciduria. An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia

11 August 2023

3

1 reference

https://api.crossref.org/works/10.1056/NEJM198304143081501

Methylmalonic acidemia. A disorder associated with acidosis, hyperglycinemia, and hyperlactatemia

11 August 2023

4

1 reference

https://api.crossref.org/works/10.1056/NEJM198304143081501

Observations on the coexistence of methylmalonic acidemia and glycinemia

11 August 2023

5

1 reference

https://api.crossref.org/works/10.1056/NEJM198304143081501

Methylmalonic Aciduria: Metabolic Block Localization and Vitamin B 12 Dependency

11 August 2023

9

1 reference

https://api.crossref.org/works/10.1056/NEJM198304143081501

The effect of cobamide coenzyme in methylmalonic acidemia

11 August 2023

10

1 reference

https://api.crossref.org/works/10.1056/NEJM198304143081501

Genetic and biochemical analysis of human cobalamin mutants in cell culture

11 August 2023

11

1 reference

https://api.crossref.org/works/10.1056/NEJM198304143081501

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

11 August 2023

12

1 reference

https://api.crossref.org/works/10.1056/NEJM198304143081501

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

11 August 2023

13

1 reference

https://api.crossref.org/works/10.1056/NEJM198304143081501

Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism

11 August 2023

14

1 reference

https://api.crossref.org/works/10.1056/NEJM198304143081501

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

11 August 2023

15

1 reference

https://api.crossref.org/works/10.1056/NEJM198304143081501

Cobalamin Binding and Cobalamin-Dependent Enzyme Activity in Normal and Mutant Human Fibroblasts

11 August 2023

17

1 reference

https://api.crossref.org/works/10.1056/NEJM198304143081501

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

11 August 2023

18

1 reference

https://api.crossref.org/works/10.1056/NEJM198304143081501

Immunochemical studies on cultured fibroblasts from patients with inherited methylmalonic acidemia

11 August 2023

19

1 reference

https://api.crossref.org/works/10.1056/NEJM198304143081501

Prenatal Therapy of a Patient with Vitamin-B12-Responsive Methylmalonic Acidemia

11 August 2023

20

1 reference

https://api.crossref.org/works/10.1056/NEJM198304143081501

11 August 2023

Identifiers

1 reference

31 July 2017

1 reference