(Q40528887)

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31 December 2019

title

The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis (English)

1 reference

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31 December 2019

author

Matthias R Baumgartner

2

1 reference

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31 December 2019

David Coelho

3

1 reference

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31 December 2019

Viktor Kožich

5

1 reference

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31 December 2019

author name string

Terttu Suormala

1

1 reference

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31 December 2019

Petra Zavadakova

4

1 reference

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31 December 2019

Hans Georg Koch

6

1 reference

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31 December 2019

Martin Berghaüser

7

1 reference

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31 December 2019

James E Wraith

8

1 reference

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31 December 2019

Alberto Burlina

9

1 reference

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31 December 2019

Adrian Sewell

10

1 reference

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31 December 2019

Jürgen Herwig

11

1 reference

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31 December 2019

Brian Fowler

12

1 reference

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31 December 2019

language of work or name

English

0 references

publication date

2 August 2004

1 reference

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Journal of Biological Chemistry

31 December 2019

published in

1 reference

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31 December 2019

volume

279

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31 December 2019

issue

41

1 reference

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31 December 2019

page(s)

42742-42749

1 reference

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Defects in human methionine synthase in cblG patients

31 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M407733200

Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M407733200

Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M407733200

Redundancy in the pathway for redox regulation of mammalian methionine synthase: reductive activation by the dual flavoprotein, novel reductase 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M407733200

Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH)

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M407733200

Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M407733200

Homocystinuria with methylmalonic aciduria: Two cases in a sibship

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M407733200

Genetic and biochemical analysis of human cobalamin mutants in cell culture

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M407733200

Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M407733200

Post- and prenatal diagnostic methods for the homocystinurias

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M407733200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M407733200

The human liver and reticulocyte cytochrome b5 mRNAs are products from a single gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M407733200

Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M407733200

Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M407733200

Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M407733200

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M407733200

21 January 2018

Identifiers

DOI

10.1074/JBC.M407733200

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15292234%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference