(Q44063143)

29 November 2017

title

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

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29 November 2017

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6

Patricia M Berninsone

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22 October 2018

4

Eric D Green

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29 November 2017

3

Anthony Antonellis

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29 November 2017

2

Laura Sturla

1 reference

29 November 2017

Amos Etzioni

1

1 reference

29 November 2017

Ruth Gershoni-Baruch

series ordinal

5

1 reference

29 November 2017

Carlos B Hirschberg

series ordinal

7

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29 November 2017

Michela Tonetti

series ordinal

8

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29 November 2017

language of work or name

1 reference

1 June 2002

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American Journal of Medical Genetics Part A

29 November 2017

published in

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29 November 2017

volume

110

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29 November 2017

issue

2

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29 November 2017

page(s)

131-135

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

29 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10423

Leukocyte adhesion deficiency II-from A to almost Z.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10423

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10423

Transporters of nucleotide sugars, ATP, and nucleotide sulfate in the endoplasmic reticulum and Golgi apparatus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10423

Diseases of abnormal protein glycosylation: an emerging area

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10423

Defective intracellular activity of GDP-D-mannose-4,6-dehydratase in leukocyte adhesion deficiency type II syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10423

Impairment of the Golgi GDP-L-fucose transport and unresponsiveness to fucose replacement therapy in LAD II patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10423

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10423

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10423

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10423

21 January 2018

Identifiers

DOI

10.1002/AJMG.10423

1 reference

29 November 2017

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