Art

J-GLOBAL ID：201902219938669884   Reference number：19A0783960

Consensus clinical management guidelines for Niemann-Pick disease type C

Niemann-Pick病C型に対するコンセンサス臨床管理ガイドライン【JST・京大機械翻訳】

Author (25)： Geberhiwot Tarekegn (Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK) ,  Moro Alessandro (AMC Hospital of Udine, Udine, Italy) ,  Dardis Andrea (AMC Hospital of Udine, Udine, Italy) ,  Ramaswami Uma (Royal Free London NHS Foundation Trust, London, UK) ,  Sirrs Sandra (Vancouver General Hospital, Vancouver, Canada) ,  Marfa Mercedes Pineda (Hospital Sant Joan de Deu, Barcelona, Spain) ,  Vanier Marie T. (INSERM U820, Universite de Lyon, Faculte de Medecine Lyon-Est, Lyon, France) ,  Walterfang Mark (Royal Melbourne Hospital, Parkville, Australia) ,  Bolton Shaun (University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK) ,  Dawson Charlotte (University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK) ,  Heron Benedicte (Department of Pediatric Neurology, Reference Center of Lysosomal Diseases, Trousseau Hospital, APHP, GRC ConCer-LD, Sorbonne Universities, Paris, France) ,  Stampfer Miriam (Universitatsklinikum Tubingen Institut fur Medizinische Genetik undangewandte Genomik, Tubingen, Germany) ,  Imrie Jackie (Niemann-Pick UK, Washington, UK) ,  Hendriksz Christian (Salford Royal NHS Foundation Trust, Salford, UK) ,  Gissen Paul (MRC Laboratory for Molecular Cell Biology, London, UK) ,  Crushell Ellen (Children’s University Hospital, Dublin, Republic of Ireland) ,  Coll Maria J. (Hospital Clinic de Barcelona, Barcelona, Spain) ,  Nadjar Yann (Hopital Universitaire Pitie Salpetriere, Paris, France) ,  Kluenemann Hans (Universitatsklinikum Regensburg Klinik und Poliklinik fur Chirurgie, Regensburg, Germany) ,  Mengel Eugen (Universitatmedizin Mainz, Mainz, Germany) ,  Hrebicek Martin (Charlies University in Prague, Prague, Czech Republic) ,  Jones Simon A. (Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK) ,  Ory Daniel (University of Washington School of Medicine, Seattle, USA) ,  Bembi Bruno (AMC Hospital of Udine, Udine, Italy) ,  Patterson Marc (Mayo 1290 Clinic Department of Pediatric and Adolescent Medicine, Minnesota, USA)
Material： Orphanet Journal of Rare Diseases (Web)
Volume： 13  Issue： 1  Page： 50  Publication year： 2018 
JST Material Number： U7532A  ISSN： 1750-1172  Document type： Article
Article type： 文献レビュー  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Abstract/Point： Niemann-Pick Type C (NPC) is a...

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Thesaurus term： autosome ,  neonate ,  lysosome ,  gene ,  Endosomes ,  physician ,  forecast ,  *Mutation ,  adult (person) ,  Diagnosis ,  recessive ,  Caregivers ,  scoring ,  membrane and film ,  biomembrane ,  Endomembrane system ,  Vesicles
Semi thesaurus term： 重症度 ,  発症 , 【Automatic Indexing@JST】

Author keywords (5)： Niemann-Pick Type C ,  NPC ,  Guidelines ,  Diagnosis ,  Management

JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Metabolic diseases,nutritional diseases in general.  (GD05010J)

Reference (85)：

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Terms in the title (4)： Niemann-Pick病C型 ,  コンセンサス ,  臨床管理 ,  ガイドライン