… on the genetic mechanisms behind complement dysfunction in aHUS, detail organ-specific …
Differential impact of complement mutations on clinical characteristics in atypical hemolytic …

… ) that allows for detection of >230 mutations, deletions and polymorphisms that have been
previously reported as associated with complement-mediated TMAs. That assay may also …

… mutations were not detected in our cases, multiple genetic variants of complement factors
were … During PE therapy for TMA, we differentiated the clinical diagnosis of TMA including TTP, …

… In addition, mutations in the genes encoding membrane cofactor protein and complement
factor I were more common in children and adults, respectively. In this study, ESRD as an …

… complement deregulation with an overlap between both scenarios, which can make differential
… Clinical features and additional investigations are usually needed to differentiate both …

… characteristics and outcomes of subjects with clinically suspected aHUS and potential
differences in clinical features between cases of complement-… results for differential diagnostic …

… renal disorders such as atypical hemolytic uremic syndrome (… range of clinical features such
as dysmorphic facial features (… aHUS, mutations in DDD typically do not impair complement …

… This report confirms the importance of screening patients with atypical hemolytic uremic
syndrome for mutations in genes involved in complement system to clarify the diagnosis and …

… Our meta-analysis on functional complement gene mutations among patients with aHUS (Table
2) showed that the pooled proportion of CFB mutation was lowest [1.55% (0.99–2.32%)] …

… by whole exome sequence and the clinical characteristics of pediatric patients with aHUS. …
with and without combined complement and coagulation mutations were found in this study. …