(Q33592500)

28 July 2017

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients (English)

1 reference

María Eugenia de la Morena Barrio

28 July 2017

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24139637%20AND%20SRC:MED&resulttype=core&format=json

Trinidad Hernández-Caselles

2 June 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24139637%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Javier Corral

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24139637%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Irene Martínez-Martínez

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24139637%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

BELEN PEREZ DUEÑAS

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24139637%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Encarna Guillén Navarro

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24139637%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Vicente Vicente

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24139637%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Maria L. Lozano

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24139637%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

author name string

Roberto García-López

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24139637%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Carmen Altisent

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24139637%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Teresa Sevivas

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24139637%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Soren R Kristensen

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24139637%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Antonia Miñano

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24139637%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Jaak Jaeken

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24139637%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

language of work or name

1 reference

20 October 2013

1 reference

Orphanet Journal of Rare Diseases

28 July 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24139637%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

volume

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24139637%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

page(s)

170

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24139637%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1186/1750-1172-8-170

2 June 2020

exact match

0 references

cites work

Thrombosis in paroxysmal nocturnal hemoglobinuria

1 reference

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Thrombotic complications in patients with PMM2-CDG.

28 July 2018

1 reference

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Understanding human glycosylation disorders: biochemistry leads the charge

28 July 2018

1 reference

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DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

28 July 2018

1 reference

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Paroxysmal nocturnal hemoglobinuria and other complement-mediated hematological disorders

28 July 2018

1 reference

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Diseases of glycosylation beyond classical congenital disorders of glycosylation

28 July 2018

1 reference

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Congenital disorders of glycosylation: sweet news

28 July 2018

1 reference

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Epitope mapping, expression and post-translational modifications of two isoforms of CD33 (CD33M and CD33m) on lymphoid and myeloid human cells

28 July 2018

1 reference

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Congenital disorders of glycosylation

28 July 2018

1 reference

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Alteration of brain glycoproteins during aging

28 July 2018

1 reference

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Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides

28 July 2018

1 reference

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CDG nomenclature: time for a change!

28 July 2018

1 reference

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The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).

28 July 2018

1 reference

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Inherited glycosylphosphatidyl inositol deficiency: a treatable CDG.

28 July 2018

1 reference

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Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia.

28 July 2018

1 reference

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Endotoxin recognition and signal transduction by the TLR4/MD2-complex

28 July 2018

1 reference

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Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A

28 July 2018

1 reference

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Cell type-specific glycoforms of Fc gamma RIIIa (CD16): differential ligand binding.

28 July 2018

1 reference

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

28 July 2018

1 reference

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Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome

28 July 2018

1 reference

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Diagnostic specificity of sucrose hemolysis test for paroxysmal nocturnal hemoglobinuria

28 July 2018

1 reference

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Alternative membrane forms of Fc gamma RIII(CD16) on human natural killer cells and neutrophils. Cell type-specific expression of two genes that differ in single nucleotide substitutions

28 July 2018

1 reference

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Carbohydrates on human Fc gamma receptors. Interdependence of the classical IgG and nonclassical lectin-binding sites on human Fc gamma RIII expressed on neutrophils

28 July 2018

1 reference

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Functional analysis of T-cell mutants defective in the biosynthesis of glycosylphosphatidylinositol anchor. Relative importance of glycosylphosphatidylinositol anchor versus N-linked glycosylation in T-cell activation

28 July 2018

1 reference

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Molecular basis of the enhanced susceptibility of the erythrocytes of paroxysmal nocturnal hemoglobinuria to hemolysis in acidified serum

28 July 2018

1 reference

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Congenital disorders of glycosylation (CDG): it's (nearly) all in it!

28 July 2018

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Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF).

21 January 2018

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Congenital disorder of glycosylation (PMM2-CDG) in a patient with antithrombin deficiency and severe thrombophilia.

21 January 2018

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Congenital disorders of glycosylation: a rapidly expanding disease family

21 January 2018

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Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications.

21 January 2018

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Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake

21 January 2018

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CD14 deficiency leads to increased MIP-2 production, CXCR2 expression, neutrophil transmigration, and early death in pneumococcal infection.

21 January 2018

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Recurrent infections and immunological dysfunction in congenital disorder of glycosylation Ia (CDG Ia).

21 January 2018

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Guidelines for the diagnosis and monitoring of paroxysmal nocturnal hemoglobinuria and related disorders by flow cytometry.

21 January 2018

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

30 October 2018

1 reference

12 December 2020

Isoforms and levels of transferrin, antithrombin, alpha(1)-antitrypsin and thyroxine-binding globulin in 48 patients with carbohydrate-deficient glycoprotein syndrome type I

1 reference

12 December 2020

CYP 3A proteins are expressed in human neutrophils and lymphocytes but are not induced by rifampicin

1 reference

12 December 2020

Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening

1 reference

12 December 2020

[Diagnosis and treatment of nocturnal paroxysmal hemoglobinuria]

1 reference

12 December 2020

Diversity of congenital disorders of glycosylation

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12 December 2020

Identifiers

DOI

10.1186/1750-1172-8-170

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24139637%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

2 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24139637%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24139637%20AND%20SRC:MED&resulttype=core&format=json