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Management of neuronopathic Gaucher disease: Revised recommendations
Author(s) -
Vellodi A.,
TylkiSzymanska A.,
Davies E. H.,
Kolodny E.,
Bembi B.,
CollinHisted T.,
Mengel E.,
Erikson A.,
Schiffmann R.
Publication year - 2009
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-009-1164-2
Subject(s) - enzyme replacement therapy , disease , gaucher's disease , medicine , pediatrics , metabolic disease , intensive care medicine
Summary 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.