Associated Papers
Defective C3d caused by C3 p.W1034R in inherited atypical hemolytic uremic syndrome.
Tsuchida M et al.
Molecular Genetics & Genomic Medicine, 2024
Pathogenesis of Atypical Hemolytic Uremic Syndrome.
Yoshida Y et al.
Journal of Atherosclerosis and Thrombosis, 2019
Pharmacokinetics and Pharmacodynamics Estimation of Eculizumab in a 2-Year-Old Girl With Atypical Hemolytic Uremic Syndrome: A Case Report With 4-Year Follow-Up.
Saida K et al.
Frontiers in Pediatrics, 2019
Clinical characteristics and genetic backgrounds of Japanese patients with atypical hemolytic uremic syndrome.
Fujisawa M et al.
Clinical and Experimental Nephrology, 2018
Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.
Geerlings MJ et al.
Clinical Genetics, 2018
29888403 (PubMed )
Supplement: CGE-94-330-s001.zip › Appendix_S1 › Table_S4.xlsx › C3
Functional splicing analysis in an infantile case of atypical hemolytic uremic syndrome caused by digenic mutations in C3 and MCP genes.
Yamamura T et al.
Journal of Human Genetics, 2018
A novel quantitative hemolytic assay coupled with restriction fragment length polymorphisms analysis enabled early diagnosis of atypical hemolytic uremic syndrome and identified unique predisposing mutations in Japan.
Yoshida Y et al.
Plos One, 2015
[Development and application of a new ADAMTS13 assay for TTP diagnosis].
Kokame K et al.
Rinsho Byori. the Japanese Journal of Clinical Pathology, 2005
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