Carla E. M. Hollak

TL;DR: It is concluded that plasma chitotriosidase levels can serve as a new diagnostic hallmark of GD and should prove to be useful in assessing whether clinical manifestations of GD are present and for monitoring the efficacy of therapeutic intervention.

TL;DR: In this paper, the potential physiologic consequences of chronically elevated CCL18 levels in patients with Gaucher disease are discussed, as well as the potential pharmacologic consequences associated with chronically elevated levels.

TL;DR: Emergence of antibodies with in vivo neutralizing capacities is frequently encountered in treated Fabry disease patients and complete cross-reactivity of these antibodies suggests that it is unlikely that switching from one to the other recombinant protein prevents the immune response and related effects.

TL;DR: In this article, the authors defined European consensus recommendations for the initiation and cessation of Enzyme Replacement Therapy (ERT) in patients with Fabry disease, which may halt or attenuate disease progression.

TL;DR: The design, synthesis and application of two fluorescent activity-based probes allowing highly specific labeling of active GBA molecules in vitro and in cultured cells and mice in vivo are reported, allowing them to study inhibitors and tentative chaperones in living cells.