Introduction Fabry disease (FD) may present with left ventricular hypertrophy (LVH), renal
insufficiency or stroke. Several studies investigated FD prevalence in populations expressing …

A biomarker is an analyte indicating the presence of a biological process linked to the
clinical manifestations and outcome of a particular disease. In the case of lysosomal storage …

An overview of the most important plasma abnormalities that can be found in Gaucher's
disease is presented in this chapter. Attention is focussed on their practical applications and …

Gaucher disease is characterized by storage of glucosylceramide in lysosomes of tissue
macrophages as the result of an autosomal recessively inherited deficiency in …

Gaucher disease, caused by a deficiency of the lysosomal enzyme glucocerebrosidase,
leads to prominent glucosylceramide accumulation in lysosomes of tissue macrophages (…

Introduction Fabry disease (FD) is a lysosomal storage disorder resulting in progressive
nervous system, kidney and heart disease. Enzyme replacement therapy (ERT) may halt or …

Background Two different enzyme preparations, agalsidase alfa (Replagal TM , Shire) and
beta (Fabrazyme TM , Genzyme), are registered for treatment of Fabry disease. We compared …

… Gabor Linthorst and Carla Hollak have been involved in the phase III clinical study with
agalsidase beta. The authors do not serve as consultants to, hold stock in, or receive money from …

… ) using λ ex 488 nm and λ em 520 nm (bandpass 40) for green fluorescent MDW933 and λ
ex 532 nm and λ em 610 nM (bandpass 30) for red fluorescent MDW941. … Carla EM Hollak …

PURPOSE: To develop a semiquantitative magnetic resonance (MR) imaging bone marrow
burden (BMB) score with inclusion of both axial and peripheral bone marrow in Gaucher …