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Consensus clinical management guidelines for Niemann-Pick disease type C.
Geberhiwot, Tarekegn; Moro, Alessandro; Dardis, Andrea; Ramaswami, Uma; Sirrs, Sandra; Marfa, Mercedes Pineda; Vanier, Marie T; Walterfang, Mark; Bolton, Shaun; Dawson, Charlotte; Héron, Bénédicte; Stampfer, Miriam; Imrie, Jackie; Hendriksz, Christian; Gissen, Paul; Crushell, Ellen; Coll, Maria J; Nadjar, Yann; Klünemann, Hans; Mengel, Eugen; Hrebicek, Martin; Jones, Simon A; Ory, Daniel; Bembi, Bruno; Patterson, Marc.
Afiliación
  • Geberhiwot T; Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK. tarekegn.hiwot@uhb.nhs.uk.
  • Moro A; AMC Hospital of Udine, Udine, Italy.
  • Dardis A; AMC Hospital of Udine, Udine, Italy.
  • Ramaswami U; Royal Free London NHS Foundation Trust, London, UK.
  • Sirrs S; Vancouver General Hospital, Vancouver, Canada.
  • Marfa MP; Hospital Sant Joan de Deu, Barcelona, Spain.
  • Vanier MT; INSERM U820, Université de Lyon, Faculté de Médecine Lyon-Est, Lyon, 69372, France.
  • Walterfang M; Royal Melbourne Hospital, Parkville, Australia.
  • Bolton S; University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.
  • Dawson C; University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.
  • Héron B; Department of Pediatric Neurology, Reference Center of Lysosomal Diseases, Trousseau Hospital, APHP, GRC ConCer-LD, Sorbonne Universities, UPMC University 06, Paris, France.
  • Stampfer M; Universitatsklinikum Tubingen Institut fur Medizinische Genetik undangewandte Genomik, Tubingen, Germany.
  • Imrie J; Niemann-Pick UK, Washington, UK.
  • Hendriksz C; Salford Royal NHS Foundation Trust, Salford, UK.
  • Gissen P; MRC Laboratory for Molecular Cell Biology, London, UK.
  • Crushell E; Children's University Hospital, Dublin, Republic of Ireland.
  • Coll MJ; Hospital Clinic de Barcelona, Barcelona, Spain.
  • Nadjar Y; Hopital Universitaire Pitie Salpetriere, Paris, France.
  • Klünemann H; Universitatsklinikum Regensburg Klinik und Poliklinik fur Chirurgie, Regensburg, Germany.
  • Mengel E; Universitatmedizin Mainz, Mainz, Germany.
  • Hrebicek M; Charlies University in Prague, Prague, Czech Republic.
  • Jones SA; Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
  • Ory D; University of Washington School of Medicine, Seattle, USA.
  • Bembi B; AMC Hospital of Udine, Udine, Italy.
  • Patterson M; Mayo 1290 Clinic Department of Pediatric and Adolescent Medicine, Minnesota, USA.
Orphanet J Rare Dis ; 13(1): 50, 2018 04 06.
Article en En | MEDLINE | ID: mdl-29625568

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Guías de Práctica Clínica como Asunto / Enfermedad de Niemann-Pick Tipo C Tipo de estudio: Guideline / Prognostic_studies Límite: Humans Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2018 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Guías de Práctica Clínica como Asunto / Enfermedad de Niemann-Pick Tipo C Tipo de estudio: Guideline / Prognostic_studies Límite: Humans Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2018 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Reino Unido