Cardiovascular involvement in fabry disease scielo colombia. All structured data from the file and property namespaces is available under the creative commons cc0 license. Pdf fabry disease is a lysosomal condition with systemic clinical expression, caused by the tissue deposit of globotriaosylceramide, due to a. William anderson johannes fabry bernard klionsky arnold willem maria pompen maximillian ruiter charles sweeley. Citation lists with outbound citation links are available to subscribers only. Files are available under licenses specified on their description page. Aug 23, 2018 please use one of the following formats to cite this article in your essay, paper or report. Fabry disease is a genetic condition that causes lysosomal storage of products like glotriaosylceramide, neural glycosphingolipids and diagalactosylceramide, as a consequence of alphagalactosidase a enzyme deficiency.
Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the bodys cells. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for fabry disease. Fue descrita por johannes fabry y william anderson en 1898. Mabry syndrome is a condition characterized by intellectual disability, distinctive facial features, increased levels of an enzyme called alkaline phosphatase in the blood hyperphosphatasia, and other signs and symptoms. Fabry disease genetic and rare diseases information center.
Angiokeratoma corporis diffusum universale, or fabry s disease, was regarded as a dcrmatologie curiosity until a description by. Click on the link to view a sample search on this topic. Malattia di andersonfabry sindrome di anderson morbo di ruiterpompen sindrome di ruiterpompenwyers malattia di sweeleyklionsky angiocheratoma corporis diffusum deficit di alfagalattosidasi porpora emorragica nodulare eponimi. A fabry perot interferometer is a device that uses multiple beam interference of light for high resolution spectroscopy. We would like to show you a description here but the site wont allow us. The defect leads to accumulation of uncleaved globo. Em doentes do sexo masculino, hemozigotos, o gene do fabry tem alta. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Fabry disease is an uncommon, xlinked lysosomal storage disorder, caused by partial or complete deficiency of the enzyme. People with mabry syndrome have intellectual disability that is often moderate to severe.