(Q28118700)

4 January 2017

title

Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria (English)

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Metabolism of cobalamin associated C

4 January 2017

0 references

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GOA release 2020-03-11

FAD binding

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GOA release 2020-03-11

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D. S. Froese

1

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4 January 2017

J. Zhang

series ordinal

2

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4 January 2017

S. Healy

series ordinal

3

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4 January 2017

R. A. Gravel

series ordinal

4

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4 January 2017

publication date

1 December 2009

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Molecular Genetics and Metabolism

4 January 2017

published in

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4 January 2017

volume

98

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4 January 2017

issue

4

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4 January 2017

page(s)

338–343

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Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations

4 January 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

Late-onset cobalamin-C disorder: a challenging diagnosis.

7 January 2021

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The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC).

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

Decyanation of vitamin B12 by a trafficking chaperone

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product

7 January 2021

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Crystal structure of human carbonic anhydrase-related protein VIII reveals the basis for catalytic silencing

7 January 2021

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Role of the dimethylbenzimidazole tail in the reaction catalyzed by coenzyme B12-dependent methylmalonyl-CoA mutase

7 January 2021

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Fluorescence quenching by nucleotides of the plasma membrane H+-ATPase from Kluyveromyces lactis

7 January 2021

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Effect of vitamin B12 treatment on haptocorrin

7 January 2021

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Vitamin B12 Concentrations in Human Tissues

7 January 2021

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How coenzyme B12 radicals are generated: the crystal structure of methylmalonyl-coenzyme A mutase at 2 A resolution

7 January 2021

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Importance of the histidine ligand to coenzyme B12 in the reaction catalyzed by methylmalonyl-CoA mutase

7 January 2021

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Redox compartmentalization in eukaryotic cells

7 January 2021

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Human methionine synthase reductase is a molecular chaperone for human methionine synthase

7 January 2021

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B12 trafficking in mammals: A for coenzyme escort service

7 January 2021

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Recognition of two intracellular cobalamin binding proteins and their identification as methylmalonyl-CoA mutase and methionine synthetase

7 January 2021

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Intracellular binding of radioactive hydroxocobalamin to cobalamin-dependent apoenzymes in rat liver

7 January 2021

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10.1016/J.YMGME.2009.07.014

7 January 2021

Identifiers

DOI

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