[HTML][HTML] Molecular Studies and an ex vivo Complement Assay on Endothelium Highlight the Genetic Complexity of Atypical Hemolytic Uremic Syndrome: The Case of …

R Piras, P Iatropoulos, E Bresin, M Todeschini… - Frontiers in …, 2020 - frontiersin.org
Atypical hemolytic uremic syndrome (aHUS) is an ultra-rare disease characterized by
microangiopathic hemolysis, thrombocytopenia, and renal impairment and is associated …

[HTML][HTML] Deleterious Impact of a Novel CFH Splice Site Variant in Atypical Hemolytic Uremic Syndrome

R Schönauer, A Seidel, M Grohmann… - Frontiers in …, 2019 - frontiersin.org
Atypical hemolytic uremic syndrome (aHUS) is a heterogeneous disorder characterized by
microangiopathic hemolytic anemia (MAHA), thrombocytopenia, and acute kidney injury …

Inherited deficiency of membrane cofactor protein expression and varying manifestations of recurrent atypical hemolytic uremic syndrome in a sibling pair

L Couzi, C Contin-Bordes, F Marliot, A Sarrat… - American Journal of …, 2008 - Elsevier
Atypical hemolytic uremic syndrome (aHUS) is a rare thrombotic microangiopathic disorder
that may be familial or sporadic. Complement factor H (CFH), factor I, and membrane …

[HTML][HTML] An ex vivo test to investigate genetic factors conferring susceptibility to atypical haemolytic uremic syndrome

S Gastoldi, S Aiello, M Galbusera, M Breno… - Frontiers in …, 2023 - frontiersin.org
Introduction Comprehensive genetic analysis is essential to clinical care of patients with
atypical haemolytic uremic syndrome (aHUS) to reinforce diagnosis, and to guide treatment …

[HTML][HTML] CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome

R Piras, E Valoti, M Alberti, E Bresin, C Mele… - Frontiers in …, 2023 - frontiersin.org
Introduction Atypical hemolytic uremic syndrome (aHUS) is a rare disease that manifests
with microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure, and is …

Novel homozygous CD46 variant with C‐isoform expression affects C3b inactivation in atypical hemolytic uremic syndrome

VR Schack, MK Herlin, H Pedersen… - European Journal of …, 2022 - Wiley Online Library
Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy that may lead
to organ failure. Dysregulation of the complement system can cause aHUS, and various …

[HTML][HTML] Rare functional variants in complement genes and anti-FH autoantibodies-associated aHUS

E Valoti, M Alberti, P Iatropoulos, R Piras… - Frontiers in …, 2019 - frontiersin.org
Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by
microangiopathic hemolytic anemia, thrombocytopenia and renal failure. It is caused by …

Atypical hemolytic uremic syndrome: update on the complement system and what is new

P Hirt-Minkowski, M Dickenmann… - Nephron Clinical Practice, 2010 - karger.com
Atypical hemolytic uremic syndrome (aHUS) is a rare disease of microangiopathic hemolytic
anemia, thrombocytopenia, and predominant renal impairment. It is characterized by the …

Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome

F Bu, T Maga, NC Meyer, K Wang… - Journal of the …, 2014 - journals.lww.com
Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy caused by
uncontrolled activation of the alternative pathway of complement at the cell surface level that …

[HTML][HTML] Atypical hemolytic uremic syndrome: a brief review

K Zhang, Y Lu, KT Harley, MH Tran - Hematology reports, 2017 - ncbi.nlm.nih.gov
Atypical hemolytic uremic syndrome (aHUS) is a disease characterized by the triad of
microangiopathic hemolytic anemia, thrombocytopenia and acute kidney injury. The …