Management of neuronopathic Gaucher disease: revised recommendations.
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.
Vellodi
A
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
A
The Children's Memorial Health Institute, Warsaw, Poland.
Davies
E H
EH
Institute of Child Health, London, UK.
Kolodny
E
E
Department of Neurology, New York University School of Medicine, New York, NY, USA.
Bembi
B
B
Centro di Coordinamento Regionale per le Malattie Rare, Ospedale Universitario, Udine, Italy.
Collin-Histed
T
T
Gauchers Association Ltd., Dursley, Gloucestershire, GL11 4NG, UK.
Mengel
E
E
Children's Hospital, Medical Center Gutenberg University Mainz, Mainz, Germany.
Erikson
A
A
Department of Paediatrics, Umeå University, Umeå, Sweden.
Schiffmann
R
R
Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas, USA.
D003376:Counseling; D056947:Enzyme Replacement Therapy / Q000379:methods; D005776:Gaucher Disease / Q000145:classification / Q000175:diagnosis / Q000628:therapy*; D006287:Health Planning Guidelines; D006801:Humans; D012944:Social Support