3 Gaucher's disease: clinical features and natural history

TM Cox, JP Schofield - Bailliere's clinical haematology, 1997 - Elsevier
Gaucher's disease is an inherited disorder characterized by pathological storage of
glycolipid in mononuclear phagocytes: it is a multi-system disease associated with striking
variation in its clinical manifestations, severity and course. Although molecular analysis of
the glucocerbrosidase gene in patients with Gaucher's disease has permitted broad
correlations between genotype and phenotype to be made, with few exceptions genetic
variation at this locus does not allow confident prediction of clinical phenotype or prognosis …