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The definition of neuronopathic Gaucher disease.
Schiffmann, Raphael; Sevigny, Jeff; Rolfs, Arndt; Davies, Elin Haf; Goker-Alpan, Ozlem; Abdelwahab, Magy; Vellodi, Ashok; Mengel, Eugen; Lukina, Elena; Yoo, Han-Wook; Collin-Histed, Tanya; Narita, Aya; Dinur, Tama; Revel-Vilk, Shoshana; Arkadir, David; Szer, Jeff; Wajnrajch, Michael; Ramaswami, Uma; Sidransky, Ellen; Donald, Aimee; Zimran, Ari.
Afiliação
  • Schiffmann R; Baylor Scott & White Research Institute, Dallas, Texas.
  • Sevigny J; Prevail Therapeutics, New York, New York.
  • Rolfs A; Centogene AG, Rostock, Germany.
  • Davies EH; Aparito, Ltd, Gwenfro Technology Park, Wrexham, UK.
  • Goker-Alpan O; Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), Fairfax, Virginia.
  • Abdelwahab M; Department of Pediatric Hematology, Cairo University Pediatric Hospital, Cairo, Egypt.
  • Vellodi A; Bushey Herts WD23 1DU, Bushey, UK.
  • Mengel E; Clinical Science for LSD, Hochheim, Germany.
  • Lukina E; National Research Center for Hematology, Moscow, Russia.
  • Yoo HW; Asan Medical Center, Department of Pediatrics, Medical Genetics & Genomics Center, Seoul, South Korea.
  • Collin-Histed T; International Gaucher Alliance, Dursley, UK.
  • Narita A; Division of Child Neurology, Institute of Neurological Science, Tottori University Faculty of Medicine, Yonago, Tottori, Japan.
  • Dinur T; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem, Israel.
  • Revel-Vilk S; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem, Israel.
  • Arkadir D; Hebrew University-Hadassah Medical School, Jerusalem, Israel.
  • Szer J; Clinical Haematology, Peter MacCallum Cancer Centre and The Royal Melbourne Hospital, Melbourne, Australia.
  • Wajnrajch M; Pfizer Inc., Clinical Professor of Pediatrics, New York University Langone School of Medicine, New York, New York.
  • Ramaswami U; Lysosomal Storage Disorder Unit, Royal Free Hospital, London, UK.
  • Sidransky E; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Donald A; University of Manchester, St Marys Hospital, Manchester, UK.
  • Zimran A; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem, Israel.
J Inherit Metab Dis ; 43(5): 1056-1059, 2020 09.
Article em En | MEDLINE | ID: mdl-32242941
Neuronopathic Gaucher disease (nGD) has a very wide clinical and genotypic spectrum. However, there is no consensus definition of nGD, including no description of how best to diagnostically separate the acute form-Gaucher type 2-from the subacute or chronic form-Gaucher type 3. In this article, we define the various forms of Gaucher disease with particular emphasis on the presence of gaze palsy in all patients with nGD. This consensus definition will help in both clinical diagnosis and appropriate patient recruitment to upcoming clinical trials.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Gaucher Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Gaucher Idioma: En Ano de publicação: 2020 Tipo de documento: Article