A novel mutation in leukocyte adhesion deficiency type II/CDGIIc (Q40190315)

18 September 2017

A novel mutation in leukocyte adhesion deficiency type II/CDGIIc (English)

1 reference

18 September 2017

Deniz Cagdas

1

1 reference

18 September 2017

Mustafa Yilmaz

2

1 reference

18 September 2017

Nurgün Kandemir

3

1 reference

18 September 2017

Ilhan Tezcan

4

1 reference

18 September 2017

Amos Etzioni

5

1 reference

18 September 2017

Özden Sanal

6

1 reference

18 September 2017

21 September 2014

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Journal of Clinical Immunology

18 September 2017

1 reference

18 September 2017

34

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18 September 2017

8

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18 September 2017

1009-1014

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https://scigraph.springernature.com/pub.10.1007/s10875-014-0091-7

18 September 2017

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cites work

Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0091-7

Leukocyte adhesion deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0091-7

Leukocyte adhesion deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0091-7

Educational paper: Defects in number and function of neutrophilic granulocytes causing primary immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0091-7

Leukocyte adhesion deficiency type II: long-term follow-up and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0091-7

Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0091-7

Fringe is a glycosyltransferase that modifies Notch

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0091-7

The search for glycan function: fucosylation of the TGF-beta1 receptor is required for receptor activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0091-7

Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0091-7

Leukocyte adhesion deficiency II. Advances and open questions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0091-7

Brief report: recurrent severe infections caused by a novel leukocyte adhesion deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0091-7

Neuroepithelial cells require fucosylated glycans to guide the migration of vagus motor neuron progenitors in the developing zebrafish hindbrain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0091-7

Alpha1,6-fucosyltransferase-deficient mice exhibit multiple behavioral abnormalities associated with a schizophrenia-like phenotype: importance of the balance between the dopamine and serotonin systems.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0091-7

Leukocyte adhesion deficiency II: therapy and genetic defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0091-7

Insights into leukocyte adhesion deficiency type 2 from a novel mutation in the GDP-fucose transporter gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0091-7

SQV-7, a protein involved in Caenorhabditis elegans epithelial invagination and early embryogenesis, transports UDP-glucuronic acid, UDP-N- acetylgalactosamine, and UDP-galactose

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0091-7

Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0091-7

Nodal Signaling in Vertebrate Development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0091-7

Correction of leukocyte adhesion deficiency type II with oral fucose

21 January 2018

1 reference

12 December 2020

Fucose supplementation in leukocyte adhesion deficiency type II

1 reference

12 December 2020

Leukocyte adhesion deficiency type II: long-term follow-up

1 reference

12 December 2020

A new type of carbohydrate-deficient glycoprotein syndrome due to a decreased import of GDP-fucose into the golgi

1 reference

12 December 2020

The familial form of atrial septal defect

1 reference

12 December 2020

Reconstitution, identification, and purification of the rat liver golgi membrane GDP-fucose transporter

1 reference

12 December 2020

The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter

1 reference

12 December 2020

Occurence of GDP-?-fucose: β-N-acetylglucosamine (Fuc to Asn-linked GlcNAc) α1,6-fucosyltransferases in porcine, sheep, bovine, rabbit and chicken tissues

1 reference

12 December 2020

10.1007/S10875-014-0091-7

Identifiers

DOI

1 reference

Dimensions Publication ID

18 September 2017

1040875436

0 references

Fatcat ID

release_xmguynge3rdsvlybxhhatizjpy

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/xmguynge3rdsvlybxhhatizjpy

24 November 2022

mapped directly with Wikidata item

1 reference