Art

J-GLOBAL ID：201802241862984270   Reference number：18A1154893

TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients

疾患認識を増加させる結節性硬化症登録(TOSCA)-2093人患者におけるベースラインデータ【JST・京大機械翻訳】

Author (30)： Kingswood John C. (Sussex Kidney Unit, Royal Sussex County Hospital, Brighton, UK) ,  d'Augeres Guillaume B. (Association Sclerose Tubereuse de Bourneville, Gradignan, France) ,  Belousova Elena (Moscow Institute of Pediatrics and Pediatric Surgery, Moscow, Russian Federation) ,  Ferreira Jose C. (Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal) ,  Carter Tom (TSA Tuberous Sclerosis Association, Nottingham, UK) ,  Castellana Ramon (Novartis Farmaceutica SA, Gran Via Corts Catalanes, Barcelona, Spain) ,  Cottin Vincent (Hopital Louis Pradel, Claude Bernard University Lyon 1, Lyon, France) ,  Curatolo Paolo (Tor Vergata University Hospital, Rome, Italy) ,  Dahlin Maria (Karolinska University Hospital, Stockholm, Sweden) ,  Vries Petrus J. de (Division of Child and Adolescent Psychiatry, University of Cape Town, Cape Town, South Africa) ,  Feucht Martha (Universitaetsklinik fuer Kinder-und Jugendheilkunde, Vienna, Austria) ,  Fladrowski Carla (Associazione Sclerosi Tuberosa ONLUS, Milan, Italy) ,  Fladrowski Carla (European Tuberous Sclerosis Complex Association, In den Birken, Dattein, Germany) ,  Gislimberti Gabriella (Novartis Farma S.p.A, Origgio, Italy) ,  Hertzberg Christoph (Vivantes-Klinikum Neukolln, Berlin, Germany) ,  Jozwiak Sergiusz (Department of Child Neurology, Warsaw Medical University, Warsaw, Poland) ,  Lawson John A. (The Tuberous Sclerosis Multidisciplinary Management Clinic, Sydney Children’s Hospital, Randwick, Australia) ,  Macaya Alfons (Hospital Universitari Vall d’Hebron, Barcelona, Spain) ,  Nabbout Rima (Department of pediatric neurology, Necker Enfants Malades Hospital, Paris Descartes University, Paris, France) ,  O'Callaghan Finbar (Institute of Child Health, University College London, London, UK) ,  Benedik Mirjana P. (SPS Pediatricna Klinika, Ljubljana, Slovenia) ,  Qin Jiong (Department of Pediatrics, Peking University People’s Hospital (PKUPH), Beijing, China) ,  Marques Ruben (Novartis Farma S.p.A, Origgio, Italy) ,  Sander Valentin (Tallinn Children Hospital, Tallinn, Estonia) ,  Sauter Matthias (Klinikverbund Kempten-Oberallgaeu gGmbH, Kempten, Germany) ,  Takahashi Yukitoshi (National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, NHO, Shizuoka, Japan) ,  Touraine Renaud (Hopital Nord, Saint Etienne, France) ,  Youroukos Sotiris (“St. Sophia” Children’s Hospital, Athens, Greece) ,  Zonnenberg Bernard (University Medical Center, Utrecht, Netherlands) ,  Jansen Anna C. (UZ Brussel VUB, Brussels, Belgium)
Material： Orphanet Journal of Rare Diseases (Web)
Volume： 12  Issue： 1  Page： 2  Publication year： 2017 
JST Material Number： U7532A  ISSN： 1750-1172  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Abstract/Point： Background Tuberous sclerosis ...

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Thesaurus term： Ependyma ,  complex (substance) ,  *patient ,  check list ,  Epilepsy ,  cortex ,  surveillance ,  plaque ,  *base line ,  population (statistics) ,  locus ,  *nodule ,  complexity ,  Brain ,  Cerebral Ventricles
Semi thesaurus term： 血管線維腫 ,  *結節性硬化症 , 【Automatic Indexing@JST】

Author keywords (6)： Tuberous sclerosis ,  Registry ,  Epilepsy ,  Subependymal giant cell astrocytoma ,  Angiomyolipoma ,  TOSCA

JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Epidemiology  (GB03000E)

Reference (42)：

• Lancet; Tuberous sclerosis; P Curatolo, R Bombardieri, S Jozwiak; 372; 2008; 657-68; 10.1016/S0140-6736(08)61279-9; CR1;
• Ann N Y Acad Sci; Epidemiology of tuberous sclerosis; JP Osborne, A Fryer, D Webb; 615; 1991; 125-7; 10.1111/j.1749-6632.1991.tb37754.x; CR2;
• N Engl J Med; The tuberous sclerosis complex; PB Crino, KL Nathanson, EP Henske; 355; 2006; 1345-56; 10.1056/NEJMra055323; CR3;
• PLoS Genet; Mosaic and intronic mutations in TSC1/TSC2 explain the majority of TSC patients with No mutation identified by conventional testing; ME Tyburczy, KA Dies, J Glass, S Camposano, Y Chekaluk, AR Thorner, L Lin, D Krueger, DN Franz, EA Thiele; 11; 2015; e1005637; 10.1371/journal.pgen.1005637; CR4;
• Biochem J; The TSC1-TSC2 complex: a molecular switchboard controlling cell growth; J Huang, BD Manning; 412; 2008; 179-90; 10.1042/BJ20080281; CR5;

Terms in the title (4)： 疾患 ,  結節性硬化症 ,  患者 ,  ベースライン