Hemolytic uremic syndrome due to homozygous factor H deficiency (Q33385215)

26 July 2017

Hemolytic uremic syndrome due to homozygous factor H deficiency (English)

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26 July 2017

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Sidharth Kumar Sethi

1

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26 July 2017

Dragon-Durey Marie-Agnes

2

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26 July 2017

Neelam Thaker

3

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26 July 2017

Pankaj Hari

4

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26 July 2017

Arvind Bagga

5

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26 July 2017

1 July 2009

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Clinical and experimental nephrology

26 July 2017

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26 July 2017

13

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5

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26 July 2017

526-530

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https://scigraph.springernature.com/pub.10.1007/s10157-009-0205-3

26 July 2017

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cites work

Familial hemolytic-uremic syndrome and homozygous factor H deficiency

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10157-009-0205-3

Disruption of disulfide bonds is responsible for impaired secretion in human complement factor H deficiency

21 January 2018

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12 December 2020

Human alternative complement pathway: membrane-associated sialic acid regulates the competition between B and beta1 H for cell-bound C3b

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12 December 2020

Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome

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12 December 2020

Favorable long-term outcome after liver-kidney transplant for recurrent hemolytic uremic syndrome associated with a factor H mutation

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12 December 2020

Guidelines on the diagnosis and management of the thrombotic microangiopathic haemolytic anaemias

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12 December 2020

Familial hemolytic uremic syndrome associated with complement factor H deficiency

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12 December 2020

Phenotypic expression of factor H mutations in patients with atypical hemolytic uremic syndrome.

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12 December 2020

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

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12 December 2020

Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome

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12 December 2020

The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20.

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12 December 2020

Successful liver-kidney transplantation in two children with aHUS caused by a mutation in complement factor H.

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12 December 2020

Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases

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12 December 2020

Complete factor H deficiency-associated atypical hemolytic uremic syndrome in a neonate

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12 December 2020

Complement factor H and the haemolytic uraemic syndrome

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12 December 2020

Hypocomplementemia discloses genetic predisposition to hemolytic uremic syndrome and thrombotic thrombocytopenic purpura: role of factor H abnormalities. Italian Registry of Familial and Recurrent Hemolytic Uremic Syndrome/Thrombotic [...]

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12 December 2020

Hypocomplementaemia due to a genetic deficiency of beta 1H globulin

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12 December 2020

Hypocomplementemic autosomal recessive hemolytic uremic syndrome with decreased factor H.

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12 December 2020

A rapid method for the purification of DNA from blood

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12 December 2020

Association of a factor H mutation with hemolytic uremic syndrome following a diarrheal illness

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12 December 2020

10.1007/S10157-009-0205-3

Identifiers

DOI

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26 July 2017

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