The Genetics of Ultra-Rare Renal Disease. - Wikidata - awgldk - TriplyDB

The Genetics of Ultra-Rare Renal Disease.

The Genetics of Ultra-Rare Renal Disease.

http://www.wikidata.org/entity/Q37032691

about

Ethical imperatives of timely access to orphan drugs: is possible to reconcile economic incentives and patients' health needs?The Evolving Landscape for Complement Therapeutics in Rheumatic and Autoimmune Diseases.

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The Genetics of Ultra-Rare Renal Disease.

http://www.wikidata.org/entity/Q37032691

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 23 February 2016

@en

vedecký článok

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vetenskaplig artikel

@sv

videnskabelig artikel

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vědecký článek

@cs

name

The Genetics of Ultra-Rare Renal Disease.

@en

The Genetics of Ultra-Rare Renal Disease.

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type

label

The Genetics of Ultra-Rare Renal Disease.

@en

The Genetics of Ultra-Rare Renal Disease.

@nl

prefLabel

The Genetics of Ultra-Rare Renal Disease.

@en

The Genetics of Ultra-Rare Renal Disease.

@nl

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Journal of pediatric genetics

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The Genetics of Ultra-Rare Renal Disease.

@en

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Carla M Nester

http://www.w3.org/2001/XMLSchema#string

Melissa Muff-Luett

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P2860

Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome

Atypical hemolytic uremic syndrome

Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism

Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II)

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype

Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis

Pre-emptive eculizumab and plasmapheresis for renal transplant in atypical hemolytic uremic syndrome

Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome

Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease)

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33-42

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scholarly article

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10.1055/S-0036-1572515

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1

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5

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2016-02-23T00:00:00Z

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27617140

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4918710

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