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Management of neuronopathic Gaucher disease: revised recommendations.
Vellodi, A; Tylki-Szymanska, A; Davies, E H; Kolodny, E; Bembi, B; Collin-Histed, T; Mengel, E; Erikson, A; Schiffmann, R.
Afiliação
  • Vellodi A; Metabolic Unit, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, WC1N 3JH, London, UK. VelloA@gosh.nhs.uk.
  • Tylki-Szymanska A; The Children's Memorial Health Institute, Warsaw, Poland.
  • Davies EH; Institute of Child Health, London, UK.
  • Kolodny E; Department of Neurology, New York University School of Medicine, New York, NY, USA.
  • Bembi B; Centro di Coordinamento Regionale per le Malattie Rare, Ospedale Universitario, Udine, Italy.
  • Collin-Histed T; Gauchers Association Ltd., Dursley, Gloucestershire, GL11 4NG, UK.
  • Mengel E; Children's Hospital, Medical Center Gutenberg University Mainz, Mainz, Germany.
  • Erikson A; Department of Paediatrics, Umeå University, Umeå, Sweden.
  • Schiffmann R; Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas, USA.
J Inherit Metab Dis ; 32(5): 660-664, 2009 Oct.
Article em En | MEDLINE | ID: mdl-19655269
ABSTRACT
The original guidelines drawn up for the management of the neuronopathic forms of Gaucher disease were felt to be in need of revision; in particular, the role of high-dose enzyme replacement therapy (120 IU/kg of body weight every 2 weeks) in stabilizing neurological disease. The existing published evidence was analysed; it was concluded that it did not support the role of high-dose ERT, although this might be required to treat severe visceral disease.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Gaucher / Diretrizes para o Planejamento em Saúde Idioma: En Ano de publicação: 2009 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 / Diretrizes para o Planejamento em Saúde Idioma: En Ano de publicação: 2009 Tipo de documento: Article