(Q24297087)

GOA release 2020-03-11

cobalamin transport

1 reference

GOA release 2020-03-11

author

Laurence Faivre

9

0 references

Albert de la Chapelle

12

object named as

Albert de la Chapelle

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author name string

Stephan M Tanner

1

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Zhongyuan Li

2

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James D Perko

3

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Cihan Oner

4

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Mualla Cetin

5

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Cigdem Altay

6

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Zekiye Yurtsever

7

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Karen L David

8

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Essam A Ismail

10

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Ralph Gräsbeck

Proceedings of the National Academy of Sciences of the United States of America

11

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language of work or name

English

0 references

publication date

15 March 2005

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published in

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volume

102

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issue

11

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page(s)

4130-3

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cites work

A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554821

The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554821

Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554821

Update on cobalamin, folate, and homocysteine

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554821

Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554821

Identification of a 4-base deletion in the gene in inherited intrinsic factor deficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554821

The Finnish Disease Heritage III: the individual diseases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554821

Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554821

mRNA surveillance: the perfect persist

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554821

Gastric juice in congenital pernicious anemia contains no immunoreactive intrinsic factor molecule: study of three kindreds with variable ages at presentation, including a patient first diagnosed in adulthood

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554821

Vitamin B12 Malabsorption Due to a Biologically Inert Intrinsic Factor

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554821

Isolation and characterization of an abnormal human intrinsic factor

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554821

Cobalamin malabsorption in three siblings due to an abnormal intrinsic factor that is markedly susceptible to acid and proteolysis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554821

Congenital and selective malabsorption of vitamin B12 with proteinuria

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554821

Nomenclature for the description of human sequence variations.

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0500517102

Idiopathic chronic megaloblastic anemia in children

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554821

Selective vitamin B12 malabsorption and proteinuria in young people. A syndrome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554821

Congenital intrinsic factor deficiency in a Spanish patient

29 November 2018

1 reference

12 December 2020

Genotypic/phenotypic heterogeneity of selective vitamin B12 malabsorption (Grasbeck-Imerslund syndrome) in two Bedouin families

1 reference

12 December 2020

Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease

1 reference

12 December 2020

Intrinsic factor studies II. The effect of gastric juice on the urinary excretion of radioactivity after the oral administration of radioactive vitamin B12

1 reference

12 December 2020

1 reference

12 December 2020

Familial selective vitamin B12 malabsorption (Imerslund-Gräsbeck syndrome) in a pool of Turkish patients

1 reference

12 December 2020