(Q43763482)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11596651%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

title

Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications (English)

1 reference

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12 November 2019

0 references

1 reference

3

1 reference

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12 November 2019

author name string

C Van Geet

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11596651%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

J Jaeken

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11596651%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

T Lenaerts

4

1 reference

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12 November 2019

J Arnout

5

1 reference

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12 November 2019

J Vermylen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11596651%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

M F Hoylaerts

7

1 reference

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12 November 2019

publication date

1 August 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11596651%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

12 November 2019

published in

1 reference

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12 November 2019

volume

24

1 reference

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12 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11596651%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

page(s)

477-492

1 reference

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https://scigraph.springernature.com/pub.10.1023/a:1010581613821

12 November 2019

exact match

0 references

cites work

Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development

1 reference

12 December 2020

Carbohydrate-deficient glycoprotein syndrome type II

1 reference

12 December 2020

Carbohydrate-deficient glycoprotein syndrome type II. An autosomal recessive N-acetylglucosaminyltransferase II deficiency different from typical hereditary erythroblastic multinuclearity, with a positive acidified-serum lysis test (HEMPAS)

1 reference

12 December 2020

Antagonism of vWF inhibits both injury induced arterial and venous thrombosis in the hamster

1 reference

12 December 2020

Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I

1 reference

12 December 2020

The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement

1 reference

12 December 2020

A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome

1 reference

12 December 2020

Recurrent arterial thrombosis linked to autoimmune antibodies enhancing von Willebrand factor binding to platelets and inducing Fc gamma RII receptor-mediated platelet activation

1 reference

12 December 2020

Platelet GPIb-V-IX complex

1 reference

12 December 2020

The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders?

1 reference

12 December 2020

The carbohydrate-deficient glycoprotein syndromes: an overview

1 reference

12 December 2020

Fine structural and functional consequences of deglycosylation of the platelet adhesion receptor GPIb-IX (CD 42b)

1 reference

12 December 2020

Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase

1 reference

12 December 2020

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

1 reference

12 December 2020

Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.

1 reference

12 December 2020

A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide

1 reference

12 December 2020

Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie

1 reference

12 December 2020