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Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients.
Mole, Sara E; Schulz, Angela; Badoe, Eben; Berkovic, Samuel F; de Los Reyes, Emily C; Dulz, Simon; Gissen, Paul; Guelbert, Norberto; Lourenco, Charles M; Mason, Heather L; Mink, Jonathan W; Murphy, Noreen; Nickel, Miriam; Olaya, Joffre E; Scarpa, Maurizio; Scheffer, Ingrid E; Simonati, Alessandro; Specchio, Nicola; Von Löbbecke, Ina; Wang, Raymond Y; Williams, Ruth E.
Afiliación
  • Mole SE; University College London, London, UK. s.mole@ucl.ac.uk.
  • Schulz A; Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.
  • Badoe E; Korle Bu Teaching Hospital, University of Ghana Medical School, Accra, Ghana.
  • Berkovic SF; Austin Health Victoria, University of Melbourne, Heidelberg, VIC, Australia.
  • de Los Reyes EC; Nationwide Children's Hospital, Columbus, OH, USA.
  • Dulz S; Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.
  • Gissen P; University College London, London, UK.
  • Guelbert N; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.
  • Lourenco CM; Hospital de Niños de La Santísima Trinidad, Cordoba, Argentina.
  • Mason HL; Universidade de São Paulo Faculdade de Medicina de Ribeirão Preto, Riberirao Preto, Brazil.
  • Mink JW; Coufetery Comms, Lapenne, France.
  • Murphy N; Golisano Childrens' Hospital, University of Rochester Medical Center, Rochester, NY, USA.
  • Nickel M; Batten Disease Support and Research Association (BDSRA), Columbus, OH, USA.
  • Olaya JE; Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.
  • Scarpa M; Children's Hospital of Orange County, Orange County, CA, USA.
  • Scheffer IE; Regional Coordinating Center for Rare Diseases, University Hospital Udine, Udine, Italy.
  • Simonati A; Austin Health Victoria, University of Melbourne, Heidelberg, VIC, Australia.
  • Specchio N; Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia.
  • Von Löbbecke I; Department of Surgery, Dentistry, Paediatrics and Gynaecology, University of Verona School of Medicine, Verona, Italy.
  • Wang RY; Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Williams RE; Practice for Child Physiotherapy, Hamburg, Germany.
Orphanet J Rare Dis ; 16(1): 185, 2021 04 21.
Article en En | MEDLINE | ID: mdl-33882967
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Lipofuscinosis Ceroideas Neuronales Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies / Systematic_reviews Límite: Humans Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2021 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Lipofuscinosis Ceroideas Neuronales Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies / Systematic_reviews Límite: Humans Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2021 Tipo del documento: Article País de afiliación: Reino Unido