Caratterizzazione genetica e terapia enzimatica sostitutiva nella forma neurologica acuta della malattia di Gaucher
G. Ciana, C. Martini, M. Romano*, B. Bembi
IRCCS “Burlo Garofolo”, Trieste; *ICGEB Area di Ricerca, Trieste
GENETIC CHARACTERISATION AND SUBSTITUTIVE ENZYME-BASED THERAPY IN THE ACUTE NEUROLOGICAL FORM OF THE GAUCHER’S DISEASE
Key words: Gaucher’s disease type 2, ß-glucosidase, Substitutive therapy
The substitutive enzyme-based therapy of the Gaucher’s
disease type 2 with a near zero enzymatic activity improved somatic
manifestations, but did not affect neurological ones.
