منابع مشابه
Anderson-Fabry disease: developments in diagnosis and treatment.
Fabry disease (Anderson-Fabry disease) is an X-linked recessive lysosomal storage disorder resulting from deficient activity of lysosomal hydrolase, alpha-galactosidase A (alpha-Gal A), which leads to progressive accumulation of globotriaosylceramide (Gb3) in various cells, predominantly endothelial and vascular smooth muscle cells, with clinical manifestations affecting major organs including ...
متن کاملPain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment
AIMS Patients with Fabry disease (FD) characteristically develop peripheral neuropathy at an early age, with pain being a crucial symptom of underlying pathology. However, the diagnosis of pain is challenging due to the heterogeneous and nonspecific symptoms. Practical guidance on the diagnosis and management of pain in FD is needed. METHODS In 2014, experts met to discuss recent advances on ...
متن کاملFabry disease – A challenge for diagnosis and treatment
Address for correspondence: Vlad Vintila, MD, PhD fellow, 169 Splaiul Independentei, District 5, Bucharest, Romania email address: [email protected] Fabry disease is a genetically inherited lysosomal storage disease, characterised by intracellular and plasmatic accumulation of glycosphingolipids, especially globotriaosylceramide (GL3) as a result of a deficiency of alfa A glactosidase e...
متن کاملFabry disease: recent advances in pathology, diagnosis, treatment and monitoring
BACKGROUND In Fabry disease (alpha-galactosidase A deficiency) accumulation of Globotriaosylceramide (Gb3) leads to progressive organ failure and premature death. The introduction of enzyme replacement therapy (ERT) was the beginning of a new era in this disorder, and has prompted a broad range of research activities. This review aims to summarize recent developments and progress with high impa...
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ژورنال
عنوان ژورنال: IUBMB Life
سال: 2009
ISSN: 1521-6543,1521-6551
DOI: 10.1002/iub.257