(Q43176259)

15 November 2017

A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient (English)

1 reference

methylmalonic aciduria and homocystinuria type cblF

15 November 2017

0 references

1 reference

7

Peter Nürnberg

1 reference

15 November 2017

10

Frank Rutsch

1 reference

15 November 2017

Susann Gailus

1

1 reference

15 November 2017

Terttu Suormala

2

1 reference

15 November 2017

Ayse Gül Malerczyk-Aktas

3

1 reference

15 November 2017

Mohammad R Toliat

4

1 reference

15 November 2017

Tanja Wittkampf

5

1 reference

15 November 2017

Martin Stucki

6

1 reference

15 November 2017

Brian Fowler

8

1 reference

15 November 2017

Julia B Hennermann

9

1 reference

15 November 2017

language of work or name

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3 February 2010

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Journal of Inherited Metabolic Disease

15 November 2017

1 reference

15 November 2017

33

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15 November 2017

1

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15 November 2017

17-24

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https://scigraph.springernature.com/pub.10.1007/s10545-009-9032-7

15 November 2017

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cites work

The lipocalin protein family: structure and function

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-009-9032-7

Defective lysosomal release of vitamin B12 (cb1F): a hereditary cobalamin metabolic disorder associated with sudden death.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-009-9032-7

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

21 January 2018

1 reference

12 December 2020

Antisense down-regulation of lipocalin-interacting membrane receptor expression inhibits cellular internalization of lipocalin-1 in human NT2 cells

1 reference

12 December 2020

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.

1 reference

12 December 2020

Hyperhomocysteinemia as risk factor for ischemic and hemorrhagic stroke in newborn infants

1 reference

12 December 2020

Novel nuclear export signal-interacting protein, NESI, critical for the assembly of hepatitis delta virus

1 reference

12 December 2020

Decyanation of vitamin B12 by a trafficking chaperone

1 reference

12 December 2020

Methylmalonic aciduria (cblF): case report and response to therapy

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Inherited disorders of vitamin B12 utilization

1 reference

12 December 2020

Neonatal vitamin B12 deficiency secondary to maternal subclinical pernicious anemia: identification by expanded newborn screening

1 reference

12 December 2020

Genetic defects of folate and cobalamin metabolism

1 reference

12 December 2020

A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of Hemimelic extra-toes mutant mice

1 reference

12 December 2020

Increased risk of intraventricular hemorrhage in preterm infants with thrombophilia.

1 reference

12 December 2020

Molecular cloning of a novel lipocalin-1 interacting human cell membrane receptor using phage display

1 reference

12 December 2020

Failure of lysosomal release of vitamin B12: a new complementation group causing methylmalonic aciduria (cblF).

1 reference

12 December 2020

Gene identification for the cblD defect of vitamin B12 metabolism

1 reference

12 December 2020

Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency

1 reference

12 December 2020

10.1007/S10545-009-9032-7

Identifiers

DOI

1 reference

Dimensions Publication ID

15 November 2017

1049060879

0 references

Fatcat ID

release_4n6f3nac4rgnrjfvdsolnqzvre

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/4n6f3nac4rgnrjfvdsolnqzvre

24 November 2022

mapped directly with Wikidata item

1 reference