Search results for "enzyme replacement therapy"

Long-term enzyme-replacement therapy (ERT) with alglucosidase alfa: Evolution of two siblings with juvenile late-onset Pompe disease

2015

Symptomatic and Ancillary Therapy

2010

Although enzyme replacement therapy has had a considerable impact on the management of patients with Fabry disease, it is essential that attention is also given to supportive therapy. In this chapter a general overview about ancillary therapy is given. The great variability of clinical symptoms faced by patients with Fabry disease need the involvement from many different specialists, as well as a wide range of concomitant treatments. Coordinating a good multidisciplinary approach for each patient and ensuring that treatment is made as convenient as possible may offer a more positive impact on the quality of life of those patients affected by Fabry disease.

Enzyme replacement therapy for Fabry's disease – Authors' reply

2010

Pathophysiologische Aspekte hirnstruktureller Veränderungen bei Morbus Fabry: Literaturübersicht

2006

Fabry Disease (FD) is a rare X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A (alpha-GAL) enzyme activity. Neutral glycosphingolipides (esp. Gb3) accumulate in lysosomes of several tissues, particularly in vascular endothelium and smooth muscle cells. Cerebral manifestations that might be mainly due to progressive cerebrovascular dysfunction, are one major and often life-threatening burden of the disease. We reviewed the present literature concerning brain structural alterations in FD and discuss the possibly relevant underlying pathophysiological aspects of these disturbances. Cerebrovascular events (TIA, stroke) occur in FD at a rather early age. In female…

Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis

2009

Abstract Background Undiagnosed patients with the attenuated form of mucopolysaccharidosis (MPS) type I often have joint symptoms in childhood that prompt referral to a rheumatologist. A survey conducted by Genzyme Corporation of 60 European and Canadian rheumatologists and pediatric rheumatologists demonstrated that Bone and joint manifestations are prominent among most patients with MPS disorders. These life-threatening lysosomal storage diseases are caused by deficient activity of specific enzymes involved in the degradation of glycosaminoglycans. Patients with attenuated MPS disease often experience diagnostic delays. Enzyme replacement therapy is now commercially available for MPS I (l…