title: Atypical haemolytic uraemic syndrome in a Japanese patient with DGKE genetic mutations.
authors.affiliation: Dr. Toshiyuki Miyata, Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, 5-7-1 Fujishiro-dai, Suita, Osaka 565-8565, Japan, Tel.: +81 6 6833 5012, Fax: +81 6 6835 1176, E-mail: miyata@ncvc.go.jp.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Miyata
authors.forename: Yumiko
authors.initials: Y
authors.lastname: Uchida
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Ohta
authors.forename: Kohtaro
authors.initials: K
authors.lastname: Urayama
authors.forename: Yoko
authors.initials: Y
authors.lastname: Yoshida
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Fujimura
mesh_terms: D061067:Antibodies, Monoclonal, Humanized / Q000627:therapeutic use; D044466:Asian People / Q000235:genetics*; D065766:Atypical Hemolytic Uremic Syndrome / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology / Q000208:ethnology / Q000235:genetics*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D016208:Databases, Factual; D019852:Diacylglycerol Kinase / Q000235:genetics*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D006973:Hypertension / Q000201:enzymology / Q000208:ethnology / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D007564:Japan; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D016896:Treatment Outcome
chemical_list: D061067:Antibodies, Monoclonal, Humanized; C481642:eculizumab; C526464:DGKE protein, human; D019852:Diacylglycerol Kinase