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Novel complement factor H gene mutation causing atypical haemolytic uraemic syndrome: early Eculizumab prevents acute dialysis
Clinical Kidney Journal
◽
10.1093/ckj/sfw132
◽
2017
◽
Vol 10
(2)
◽
pp. 263-265
Author(s):
James Collett
◽
Amali Mallawaarachchi
◽
Eddy Fischer
◽
Muralikrishna Gangadharan Komala
◽
Kamal Sud
◽
...
Keyword(s):
Gene Mutation
◽
Haemolytic Uraemic Syndrome
◽
Factor H
◽
Complement Factor H
◽
Complement Factor
◽
Acute Dialysis
◽
Atypical Haemolytic Uraemic Syndrome
◽
H Gene
Download Full-text
Related Documents
Cited By
References
Complement Factor H Gene Mutation Associated with Autosomal Recessive Atypical Hemolytic Uremic Syndrome
The American Journal of Human Genetics
◽
10.1086/302877
◽
2000
◽
Vol 66
(5)
◽
pp. 1721-1722
◽
Cited By ~ 55
Author(s):
Mark R.H. Buddles
◽
Rosemary L. Donne
◽
Anna Richards
◽
Judith Goodship
◽
Timothy H.J. Goodship
Keyword(s):
Hemolytic Uremic Syndrome
◽
Gene Mutation
◽
Autosomal Recessive
◽
Atypical Hemolytic Uremic Syndrome
◽
Factor H
◽
Complement Factor H
◽
Complement Factor
◽
H Gene
◽
Uremic Syndrome
Download Full-text
Translational Mini-Review Series on Complement Factor H: Therapies of renal diseases associated with complement factor H abnormalities: atypical haemolytic uraemic syndrome and membranoproliferative glomerulonephritis
Clinical & Experimental Immunology
◽
10.1111/j.1365-2249.2007.03558.x
◽
2007
◽
Vol 151
(2)
◽
pp. 199-209
◽
Cited By ~ 22
Author(s):
M. Noris
◽
G. Remuzzi
Keyword(s):
Membranoproliferative Glomerulonephritis
◽
Haemolytic Uraemic Syndrome
◽
Factor H
◽
Complement Factor H
◽
Renal Diseases
◽
Complement Factor
◽
Atypical Haemolytic Uraemic Syndrome
Download Full-text
COMPLEMENT FACTOR H FUNCTIONAL ASSAY MAY HELP TO MONITOR ATYPICAL HAEMOLYTIC URAEMIC SYNDROME: A PILOT STUDY
Acta Clinica Belgica
◽
10.2143/acb.68.1.2062713
◽
2013
◽
Vol 68
(1)
◽
pp. 9-14
◽
Cited By ~ 1
Author(s):
A Massart
◽
S Golmarvi
◽
S Hachimi-Idrissi
◽
E Broeders
◽
Y Tournay
◽
...
Keyword(s):
Pilot Study
◽
Haemolytic Uraemic Syndrome
◽
Factor H
◽
Complement Factor H
◽
Functional Assay
◽
Complement Factor
◽
Atypical Haemolytic Uraemic Syndrome
Download Full-text
Complement factor H mutation associated with membranoproliferative glomerulonephritis with transformation to atypical haemolytic uraemic syndrome
Clinical Kidney Journal
◽
10.1093/ckj/sfs190
◽
2013
◽
Vol 6
(2)
◽
pp. 216-219
◽
Cited By ~ 11
Author(s):
K. Janssen van Doorn
◽
E. Dirinck
◽
G. A. Verpooten
◽
M. M. Couttenye
Keyword(s):
Membranoproliferative Glomerulonephritis
◽
Haemolytic Uraemic Syndrome
◽
Factor H
◽
Complement Factor H
◽
Complement Factor
◽
Atypical Haemolytic Uraemic Syndrome
◽
Factor H Mutation
Download Full-text
Complement Factor H Gene Mutation Reproducing the Sprectrum from Atypical Hemolytic Uremic Syndrome to C3 Glomerulopathy
American Journal of Kidney Diseases
◽
10.1053/j.ajkd.2016.03.297
◽
2016
◽
Vol 67
(5)
◽
pp. A91
Keyword(s):
Hemolytic Uremic Syndrome
◽
Gene Mutation
◽
Atypical Hemolytic Uremic Syndrome
◽
Factor H
◽
Complement Factor H
◽
Complement Factor
◽
C3 Glomerulopathy
◽
H Gene
◽
Uremic Syndrome
Download Full-text
Defects in complement Factor H-related proteins and susceptibility to atypical Haemolytic Uraemic Syndrome
Molecular Immunology
◽
10.1016/j.molimm.2013.05.119
◽
2013
◽
Vol 56
(3)
◽
pp. 281
Author(s):
M. Bernabéu-Herrero
◽
M. Jiménez-Alcázar
◽
S. Pinto
◽
M. López-Trascasa
◽
S. Rodríguez de Córdoba
◽
...
Keyword(s):
Haemolytic Uraemic Syndrome
◽
Factor H
◽
Complement Factor H
◽
Complement Factor
◽
Atypical Haemolytic Uraemic Syndrome
◽
Related Proteins
Download Full-text
The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome
Journal of Medical Genetics
◽
10.1136/jmg.2008.064766
◽
2009
◽
Vol 46
(7)
◽
pp. 447-450
◽
Cited By ~ 108
Author(s):
M-A Dragon-Durey
◽
C Blanc
◽
F Marliot
◽
C Loirat
◽
J Blouin
◽
...
Keyword(s):
High Frequency
◽
Haemolytic Uraemic Syndrome
◽
Gene Deletion
◽
Factor H
◽
Complement Factor H
◽
Complement Factor
◽
Atypical Haemolytic Uraemic Syndrome
Download Full-text
Complement Factor H Gene Mutation Associated with Autosomal Recessive Atypical Hemolytic Uremic Syndrome
The American Journal of Human Genetics
◽
10.1086/302673
◽
1999
◽
Vol 65
(6)
◽
pp. 1538-1546
◽
Cited By ~ 72
Author(s):
Lihua Ying
◽
Yitzhak Katz
◽
Menachem Schlesinger
◽
Rivka Carmi
◽
Hanna Shalev
◽
...
Keyword(s):
Hemolytic Uremic Syndrome
◽
Gene Mutation
◽
Autosomal Recessive
◽
Atypical Hemolytic Uremic Syndrome
◽
Factor H
◽
Complement Factor H
◽
Complement Factor
◽
H Gene
◽
Uremic Syndrome
Download Full-text
Complement Factor H Gene Abnormalities in Haemolytic Uraemic Syndrome: From Point Mutations to Hybrid Gene
PLoS Medicine
◽
10.1371/journal.pmed.0030432
◽
2006
◽
Vol 3
(10)
◽
pp. e432
◽
Cited By ~ 5
Author(s):
Marina Noris
◽
Giuseppe Remuzzi
Keyword(s):
Haemolytic Uraemic Syndrome
◽
Point Mutations
◽
Factor H
◽
Complement Factor H
◽
Complement Factor
◽
Hybrid Gene
◽
H Gene
Download Full-text
Phenotype Characteristics of Patients With Age-Related Macular Degeneration Carrying a Rare Variant in the Complement Factor H Gene
JAMA Ophthalmology
◽
10.1001/jamaophthalmol.2017.3195
◽
2017
◽
Vol 135
(10)
◽
pp. 1037
◽
Cited By ~ 6
Author(s):
Eveline Kersten
◽
Maartje J. Geerlings
◽
Anneke I. den Hollander
◽
Eiko K. de Jong
◽
Sascha Fauser
◽
...
Keyword(s):
Macular Degeneration
◽
Rare Variant
◽
Factor H
◽
Age Related Macular Degeneration
◽
Complement Factor H
◽
Complement Factor
◽
Age Related
◽
H Gene
Download Full-text
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