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Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).
Geberhiwot, Tarekegn; Wasserstein, Melissa; Wanninayake, Subadra; Bolton, Shaun Christopher; Dardis, Andrea; Lehman, Anna; Lidove, Olivier; Dawson, Charlotte; Giugliani, Roberto; Imrie, Jackie; Hopkin, Justin; Green, James; de Vicente Corbeira, Daniel; Madathil, Shyam; Mengel, Eugen; Ezgü, Fatih; Pettazzoni, Magali; Sjouke, Barbara; Hollak, Carla; Vanier, Marie T; McGovern, Margaret; Schuchman, Edward.
Afiliação
  • Geberhiwot T; University Hospital Birmingham NHS Foundation Trust, Birmingham, UK. Tarekegn.hiwot@uhb.nhs.uk.
  • Wasserstein M; Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK. Tarekegn.hiwot@uhb.nhs.uk.
  • Wanninayake S; Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY, USA.
  • Bolton SC; University Hospital Birmingham NHS Foundation Trust, Birmingham, UK.
  • Dardis A; University Hospital Birmingham NHS Foundation Trust, Birmingham, UK.
  • Lehman A; Regional Coordinator Centre for Rare Disease, AMC Hospital of Udine, Udine, Italy.
  • Lidove O; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6T 1Z2, Canada.
  • Dawson C; Department of Internal Medicine, Hôpital de La Croix Saint Simon, Paris, France.
  • Giugliani R; University Hospital Birmingham NHS Foundation Trust, Birmingham, UK.
  • Imrie J; BioDiscovery and DR BRASIL Research Group, HCPA, Department of Genetics and PPGBM, UFRGS, INAGEMP, DASA, and Casa Dos Raros, Porto Alegre, Brazil.
  • Hopkin J; International Niemann-Pick Disease Registry, Newcastle, UK.
  • Green J; National Niemann-Pick Disease Foundation, Fort Atkinson, WI, USA.
  • de Vicente Corbeira D; International Niemann-Pick Disease Registry, Newcastle, UK.
  • Madathil S; ASMD España, Madrid, Spain.
  • Mengel E; Department of Respiratory Medicine, University Hospital Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, UK.
  • Ezgü F; Institute of Clinical Science in LSD, SphinCS, Hochheim, Germany.
  • Pettazzoni M; Division of Pediatric Metabolism and Division of Pediatric Genetics, Department of Pediatrics, Gazi University Faculty of Medicine, 06560, Ankara, Turkey.
  • Sjouke B; Biochemistry and Molecular Biology and Reference Center for Inherited Metabolic Disorders, Hospices Civils de Lyon, 59 Boulevard Pinel, 69677, Bron Cedex, France.
  • Hollak C; Department of Endocrinology and Metabolism, Amsterdam University Medical Centers, Academic Medical Center, University of Amsterdam, F5-169, P.O. Box 22660, 1100 DD, Amsterdam, The Netherlands.
  • Vanier MT; Department of Endocrinology and Metabolism, Amsterdam University Medical Centers, Academic Medical Center, University of Amsterdam, F5-169, P.O. Box 22660, 1100 DD, Amsterdam, The Netherlands.
  • McGovern M; INSERM, Hospices Civils de Lyon, Lyon, France.
  • Schuchman E; Yale School of Medicine, New Haven, CT, USA.
Orphanet J Rare Dis ; 18(1): 85, 2023 04 17.
Article em En | MEDLINE | ID: mdl-37069638
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças de Niemann-Pick / Doença de Niemann-Pick Tipo A Tipo de estudo: Guideline / Prognostic_studies / Systematic_reviews Limite: Adult / Humans Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças de Niemann-Pick / Doença de Niemann-Pick Tipo A Tipo de estudo: Guideline / Prognostic_studies / Systematic_reviews Limite: Adult / Humans Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Reino Unido