منابع مشابه
Management of Fabry Disease with Agalsidase Treatment
Fabry disease is an X-linked lysosomal storage disorder that is caused by a deficiency in the enzyme α-galactosidase A. It results in a progressive multi systemic disorder with major organ involvement (principally renal, cardiac and cerebrovascular) as well as peripheral and autonomic nervous system leading to a poor quality of life, and early death. Enzyme replacement therapy with α-galactosid...
متن کاملReview Fabry disease: a review of current management strategies
A. MEHTA, M. BECK, F. EYSKENS, C. FELICIANI, I. KANTOLA, U. RAMASWAMI, A. ROLFS, A. RIVERA, S. WALDEK and D.P. GERMAIN From the Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital and University College London School of Medicine, London, UK, Children’s Hospital, University of Mainz, Mainz, Germany, Department of Metabolic Diseases, ZNA Middelheim General Hospital, A...
متن کاملFabry disease: a review of current management strategies.
Fabry disease is an X-linked inherited condition due to the absence or reduction of alpha-galactosidase activity in lysosomes, that results in accumulation of globotriaosylceramide (Gb3) and related neutral glycosphingolipids. Manifestations of Fabry disease include serious and progressive impairment of renal and cardiac function. In addition, patients experience pain, gastrointestinal disturba...
متن کاملFabry disease
Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic and the reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease. Classically affected hemizygous males, with no residual α-galactosidase A activity may display all the characteris...
متن کاملFabry disease.
More than a hundred years ago, in 1898, two dermatologists, William Anderson in England and Johannes Fabry in Germany, independently reported on patients with multiple angiokeratomas as well as some other symptoms. Today, the disease is called Anderson-Fabry or only Fabry disease, or angiokeratoma corporis diffusum, the latter being more often found in dermatologic literature. Fabry disease is ...
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ژورنال
عنوان ژورنال: Orvosi Hetilap
سال: 2010
ISSN: 0030-6002,1788-6120
DOI: 10.1556/oh.2010.28796