The definition of neuronopathic Gaucher disease

DOI DOI DOI HANDLE Web Site ほか3件をすべて表示 一部だけ表示 被引用文献1件 オープンアクセス
  • Raphael Schiffmann
    Baylor Scott & White Research Institute Dallas Texas
  • Jeff Sevigny
    Prevail Therapeutics New York New York
  • Arndt Rolfs
    Centogene AG Rostock Germany
  • Elin Haf Davies
    Aparito, Ltd, Gwenfro Technology Park Wrexham UK
  • Ozlem Goker‐Alpan
    Lysosomal and Rare Disorders Research and Treatment Center (LDRTC) Fairfax Virginia
  • Magy Abdelwahab
    Department of Pediatric Hematology Cairo University Pediatric Hospital Cairo Egypt
  • Ashok Vellodi
    Bushey Herts WD23 1DU Bushey UK
  • Eugen Mengel
    Clinical Science for LSD Hochheim Germany
  • Elena Lukina
    National Research Center for Hematology Moscow Russia
  • Han‐Wook Yoo
    Asan Medical Center, Department of Pediatrics Medical Genetics & Genomics Center Seoul South Korea
  • Tanya Collin‐Histed
    International Gaucher Alliance Dursley UK
  • Aya Narita
    Division of Child Neurology Institute of Neurological Science, Tottori University Faculty of Medicine Yonago Tottori Japan
  • Tama Dinur
    Gaucher Unit Shaare Zedek Medical Center Jerusalem Israel
  • Shoshana Revel‐Vilk
    Gaucher Unit Shaare Zedek Medical Center Jerusalem Israel
  • David Arkadir
    Hebrew University‐Hadassah Medical School Jerusalem Israel
  • Jeff Szer
    Clinical Haematology Peter MacCallum Cancer Centre and The Royal Melbourne Hospital Melbourne Australia
  • Michael Wajnrajch
    Pfizer Inc., Clinical Professor of Pediatrics, New York University Langone School of Medicine New York New York
  • Uma Ramaswami
    Lysosomal Storage Disorder Unit Royal Free Hospital London UK
  • Ellen Sidransky
    Medical Genetics Branch, National Human Genome Research Institute National Institutes of Health Bethesda Maryland
  • Aimee Donald
    University of Manchester St Marys Hospital Manchester UK
  • Ari Zimran
    Gaucher Unit Shaare Zedek Medical Center Jerusalem Israel

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<jats:title>Abstract</jats:title><jats:p>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.</jats:p>

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