Mitochondrial vitamin B12-binding proteins in patients with inborn errors of cobalamin metabolism (Q33372815)

26 July 2017

title

Mitochondrial vitamin B12-binding proteins in patients with inborn errors of cobalamin metabolism (English)

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26 July 2017

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ChEBI release 2020-05-28

E Moras

1

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26 July 2017

A Hosack

series ordinal

2

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26 July 2017

D Watkins

series ordinal

3

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26 July 2017

D S Rosenblatt

series ordinal

4

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26 July 2017

publication date

29 September 2006

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Molecular Genetics and Metabolism

26 July 2017

published in

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26 July 2017

volume

90

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26 July 2017

issue

2

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26 July 2017

page(s)

140-147

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Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism

26 July 2017

cites work

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

7 January 2021

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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)

7 January 2021

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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

7 January 2021

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Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria

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

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The Natural History of the Inherited Methylmalonic Acidemias

7 January 2021

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

7 January 2021

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Defective metabolism of vitamin B12 in fibroblasts from children with methylmalonicaciduria

7 January 2021

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Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders

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Defects in human methionine synthase in cblG patients

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Cloning, mapping and RNA analysis of the human methionine synthase gene

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

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7 January 2021

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Defect in vitamin B12 release from lysosomes: newly described inborn error of vitamin B12 metabolism.

7 January 2021

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Lysosomal cobalamin accumulation in fibroblasts from a patient with an inborn error of cobalamin metabolism (cblF complementation group): visualization by electron microscope radioautography

7 January 2021

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Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase

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7 January 2021

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7 January 2021

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7 January 2021

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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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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Identifiers

DOI

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26 July 2017

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