Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479. (Q33412073)

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3 March 2020

case report

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title

Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479 (English)

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3 March 2020

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4

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3 March 2020

author name string

Preeti Chaudhary

1

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3 March 2020

Mehmet Hepgur

2

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3 March 2020

Sarmen Sarkissian

3

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3 March 2020

Ilene C Weitz

5

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3 March 2020

publication date

15 November 2013

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Blood transfusion = Trasfusione del sangue

3 March 2020

published in

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3 March 2020

volume

12

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3 March 2020

issue

1

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3 March 2020

page(s)

111-113

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Disease-associated N-terminal complement factor H mutations perturb cofactor and decay-accelerating activities

3 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926711

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926711

Genetics and complement in atypical HUS.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926711

Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926711

Atypical hemolytic-uremic syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926711

Structure of the N-terminal region of complement factor H and conformational implications of disease-linked sequence variations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926711

Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926711

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926711

Clinico-pathological findings in diarrhoea-negative haemolytic uraemic syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926711

Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926711

Genetic studies into inherited and sporadic hemolytic uremic syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926711

21 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24333077

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

aHUS: a disorder with many risk factors

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24333077

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.2450/2013.0107-13

1 reference

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3 March 2020

1 reference

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3 March 2020

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