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Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).
Bolton, Shaun C; Soran, Vina; Marfa, Mercedes Pineda; Imrie, Jackie; Gissen, Paul; Jahnova, Helena; Sharma, Reena; Jones, Simon; Santra, Saikat; Crushell, Ellen; Stampfer, Miriam; Coll, Maria Jose; Dawson, Charlotte; Mathieson, Toni; Green, James; Dardis, Andrea; Bembi, Bruno; Patterson, Marc C; Vanier, Marie T; Geberhiwot, Tarekegn.
Afiliação
  • Bolton SC; University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK. shaun.bolton@uhb.nhs.uk.
  • Soran V; University of Birmingham, Birmingham, UK.
  • Marfa MP; Hospital Sant Joan de Deu, Barcelona, Spain.
  • Imrie J; International Niemann-Pick Disease Registry, Newcastle, UK.
  • Gissen P; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK.
  • Jahnova H; Charles University Prague, Prague, Czech Republic.
  • Sharma R; Salford Royal Foundation NHS Trust, Manchester, UK.
  • Jones S; Manchester University NHS Foundation Trust, Manchester, UK.
  • Santra S; Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
  • Crushell E; Children's Health Ireland at Temple Street, Dublin, Ireland.
  • Stampfer M; Universitatsklinikum Tubingen Institut fur Medizinische Genetik und angewandte Genomik, Tübingen, Germany.
  • Coll MJ; Hospital Clinic de Barcelona, Barcelona, Spain.
  • Dawson C; University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.
  • Mathieson T; International Niemann-Pick Disease Registry, Newcastle, UK.
  • Green J; International Niemann-Pick Disease Registry, Newcastle, UK.
  • Dardis A; Regional Coordinator Centre for Rare Disease, AMC Hospital of Udine, Udine, Italy.
  • Bembi B; Regional Coordinator Centre for Rare Disease, AMC Hospital of Udine, Udine, Italy.
  • Patterson MC; Mayo Clinic Departments of Neurology, Pediatric and Adolescent Medicine and Medical Genetics, Rochester, USA.
  • Vanier MT; INSERM, Lyon, France.
  • Geberhiwot T; Hôpitaux de Lyon, Lyon, France.
Orphanet J Rare Dis ; 17(1): 51, 2022 02 14.
Article em En | MEDLINE | ID: mdl-35164809
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Niemann-Pick Tipo C Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Adult / Child / Humans / Newborn Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Niemann-Pick Tipo C Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Adult / Child / Humans / Newborn Idioma: En Ano de publicação: 2022 Tipo de documento: Article