Minimal disease activity in Gaucher disease: Criteria for definition

Interruption of enzyme replacement therapy in Gaucher disease

“…There are also attendant infusion-related risks. [6,7] Further analysis of a larger cohort of patients previously on drug holidays should facilitate the development of international criteria for defining stable patients [8] who could be suitable for receiving maintenance therapy with longer intervals between infusions and consideration of sanctioned treatment-free periods, such as during periods of overseas travel, with appropriate monitoring.…”

Radiodiagnostic Methods in Identifying Visceral and Osteo-Articular Changes in Gaucher Disease Type I and in Evaluation of Treatment Effectiveness

“…Выявление заболевания на ранних стадиях часто затруднено, что обусловлено вариабельностью клинических проявлений, их низкой специфичностью или бессимптомностью течения болезни [18]. Несмотря на выраженность висцеральных и гематологических проявлений, жалобы больных чаще всего связаны с поражением костно-суставной системы [9].…”

Early diagnosis of Gaucher disease in pediatric patients: Proposal for a diagnostic algorithm

“…The panel of Italian experts included members who had recently described a severity score index for type 1 GD and clinical criteria for defining minimal disease activity in GD . The group used a modified Delphi technique to reach a consensus , as had been done previously .…”