A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure.
about
Atypical hemolytic uremic syndromeRelative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotypePre-emptive eculizumab and plasmapheresis for renal transplant in atypical hemolytic uremic syndromeAdvances and challenges in the management of complement-mediated thrombotic microangiopathiesGenetics and complement in atypical HUS.aHUS caused by complement dysregulation: new therapies on the horizon.A prevalent C3 mutation in aHUS patients causes a direct C3 convertase gain of function.Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects.Assesment, treatment and prevention of atypical hemolytic uremic syndrome.Complement therapy in atypical haemolytic uraemic syndrome (aHUS).Mapping interactions between complement C3 and regulators using mutations in atypical hemolytic uremic syndrome.Arterial hypertension in children with hemolytic uremic syndrome after kidney transplantation.Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kindComplement related kidney diseases: Recurrence after transplantation.New functional and structural insights from updated mutational databases for complement factor H, Factor I, membrane cofactor protein and C3.Kidney Disease Caused by Dysregulation of the Complement Alternative Pathway: An Etiologic Approach.A case of atypical hemolytic uremic syndrome associated with the c.1273C>T mutation in the complement C3 gene.Atypical hemolytic uremic syndromeHemolytic uremic syndromeThrombotic microangiopathiesCutaneous Vasculitis and Digital Ischaemia Caused by Heterozygous Gain-of-Function Mutation in
P2860
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P2860
A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure.
description
2009 nî lūn-bûn
@nan
2009 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
A large family with a gain-of- ...... ion and chronic renal failure.
@ast
A large family with a gain-of- ...... ion and chronic renal failure.
@en
type
label
A large family with a gain-of- ...... ion and chronic renal failure.
@ast
A large family with a gain-of- ...... ion and chronic renal failure.
@en
prefLabel
A large family with a gain-of- ...... ion and chronic renal failure.
@ast
A large family with a gain-of- ...... ion and chronic renal failure.
@en
P2093
P2860
P50
P356
P1476
A large family with a gain-of- ...... ion and chronic renal failure.
@en
P2093
Barbara Petzlberger
Johanna Scheiring
Karl Lhotta
Lothar B Zimmerhackl
Reinhard Würzner
Thomas Giner
Verena Fally
Veronique Fremeaux-Bacchi
P2860
P304
P356
10.2215/CJN.06281208
P577
2009-07-09T00:00:00Z