The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis. (Q40528887)

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31 December 2019

title

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

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31 December 2019

author

Matthias R Baumgartner

2

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31 December 2019

David Coelho

3

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31 December 2019

Viktor Kožich

5

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31 December 2019

author name string

Terttu Suormala

1

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31 December 2019

Petra Zavadakova

4

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31 December 2019

Hans Georg Koch

6

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31 December 2019

Martin Berghaüser

7

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31 December 2019

James E Wraith

8

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31 December 2019

Alberto Burlina

9

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31 December 2019

Adrian Sewell

10

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Jürgen Herwig

11

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31 December 2019

Brian Fowler

12

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language of work or name

English

0 references

publication date

2 August 2004

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Journal of Biological Chemistry

31 December 2019

published in

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volume

279

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31 December 2019

issue

41

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31 December 2019

page(s)

42742-42749

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Defects in human methionine synthase in cblG patients

31 December 2019

cites work

1 reference

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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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

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Homocystinuria with methylmalonic aciduria: Two cases in a sibship

21 January 2018

1 reference

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Genetic and biochemical analysis of human cobalamin mutants in cell culture

21 January 2018

1 reference

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

21 January 2018

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Post- and prenatal diagnostic methods for the homocystinurias

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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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

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

21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

Identifiers

DOI

10.1074/JBC.M407733200

1 reference

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31 December 2019

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