Art

J-GLOBAL ID：201902263465897252   Reference number：19A2083901

Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome

溶血性尿毒症症候群として出現する非定型成人発症メチルマロン酸血症とホモシスチン尿症

Author (10)： Navarro David (Nephrology Department, Centro Hospitalar de Lisboa Central E.P.E., Hospital Curry Cabral, Lisbon, Portugal) ,  Azevedo Ana (Nephrology Department, Centro Hospitalar de Setubal E.P.E., Hospital de Sao Bernardo, Setubal, Portugal) ,  Sequeira Silvia (Metabolic Diseases Unit, Paediatric Department, Centro Hospitalar de Lisboa Central E.P.E., Hospital Dona Estefania, Lisbon, Portugal) ,  Ferreira Ana Carina (Nephrology Department, Centro Hospitalar de Lisboa Central E.P.E., Hospital Curry Cabral, Lisbon, Portugal) ,  Carvalho Fernanda (Nephrology Department, Centro Hospitalar de Lisboa Central E.P.E., Hospital Curry Cabral, Lisbon, Portugal) ,  Fidalgo Teresa (Hematology Department, Centro Hospitalar e Universitario de Coimbra, Coimbra, Portugal) ,  Vilarinho Laura (Newborn Screening, Metabolism and Genetics Unit, Dr. Ricardo Jorge National Institute of Health, Lisbon, Portugal) ,  Santos Maria Ceu (Clinical Pathology Department, Centro Hospitalar de Lisboa Central E.P.E., Hospital Sao Jose, Lisbon, Portugal) ,  Calado Joaquim (Nephrology Department, Centro Hospitalar de Lisboa Central E.P.E., Hospital Curry Cabral, Lisbon, Portugal) ,  Nolasco Fernando (Nephrology Department, Centro Hospitalar de Lisboa Central E.P.E., Hospital Curry Cabral, Lisbon, Portugal)
Material： CEN Case Reports (Web)
Volume： 7  Issue： 1  Page： 73-76  Publication year： 2018 
JST Material Number： U1452A  ISSN： 2192-4449  Document type： Article
Article type： 短報  Country of issue： Germany, Federal Republic of (DEU)  Language： ENGLISH (EN)

Thesaurus term： *metabolic disease ,...
Semi thesaurus term： *Homocystinuria ,...

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Author keywords (3)： Methylmalonic aciduria and homocystinuria ,  Thrombotic microangiopathy ,  Vitamin B12 metabolism

JST classification (3)： Urogenital diseases  (GM03000L) ,  Hematologic diseases  (GK03000F) ,  Metabolic diseases,nutritional diseases in general.  (GD05010J)

Terms in the title (6)： 溶血性尿毒症症候群 ,  定型 ,  成人 ,  発症 ,  メチルマロン酸血症 ,  ホモシスチン尿症