| ID |
http://id.who.int/icd/entity/963888228 |
| Preferred Name |
neuropathie autonome due à la maladie de fabry |
| Definitions |
This is an X-linked recessive lysosomal storage disorder caused by deficient activity of ?-galactosidase A and the resultant accumulation of globotriaosylceramide and related glycosphingolipids. Autonomic symptoms, particularly related to a small fiber polyneuropathy are seen in addition to renal, cardiac and cerebrovascular manifestations.[1] Desnick RJ. et al. Fabry disease, and under-recognized multisystemic disorder:expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003;138:338-346 |
| Type |
http://www.w3.org/2002/07/owl#Class |
| comment | jest to związane z x recesywny lysosomal zaburzenia przechowywania spowodowane przez niedobór aktywności? -galactosidase a i powstałą akumulację globotriaosylceramiide i związanych z nimi glikozydów. [1] desnick rj. et al. fabry disease, and under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. ann intern med. 2003,138: 338-346 αυτό είναι ένα x-συνδεδεμένο διαταραχή υπολειμματική αποθήκευση που προκαλείται από ανεπαρκή δραστηριότητα της -galactosidase a and the resultant accumulation of globotriaosylceramide and related glycosphingolipids. αυτόνομα συμπτώματα, ιδιαίτερα που σχετίζονται με μια μικρή πολυνευροπάθεια των ινών δει εκτός από την νεφρική, καρδιοχειρουργική και αγγειοαγγειακή εκδήλωση. [1] desnick rj. et al. fabry disease, and under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. ann intern med. 2003,138: 338-346 This is an X-linked recessive lysosomal storage disorder caused by deficient activity of ?-galactosidase A and the resultant accumulation of globotriaosylceramide and related glycosphingolipids. Autonomic symptoms, particularly related to a small fiber polyneuropathy are seen in addition to renal, cardiac and cerebrovascular manifestations.[1] Desnick RJ. et al. Fabry disease, and under-recognized multisystemic disorder:expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003;138:338-346 il s'agit d'un trouble de stockage lysosomal récessif lié aux x causé par l'activité déficiente de la galactosidase a et l'accumulation résultante de globotriaosylcéramide et de glycosphingolipides apparentés. les symptômes autonomes, particulièrement liés à une petite polyneuropathie des fibres, sont observés en plus des manifestations rénales, cardiaques et cérébrovasculaires. [1] desnick rj. et al. fabry disease, and under-recognized multisystemic disorder : expert recommendations for diagnosis, management, and enzyme replacement therapy. ann intern med. 2003,138 : 338-346 Dies ist eine x-verknüpfte rezessive lysosomale Speicherstörung, die durch mangelnde Aktivität der? -Galaktosidase a und die daraus resultierende Akkumulation von Globotriaosylceramid und verwandten Glykosphingolipiden verursacht wird. autonome Symptome, insbesondere im Zusammenhang mit einer kleinen Faserpolyneuropathie, werden zusätzlich zu renalen, kardialen und zerebrovaskulären Manifestationen beobachtet. [1] Desnick rj. et al. fabry disease, and under-recognized multisystemic disorder: expert recommendations for diagnose, management, and enzym replacement therapy. ann intern med. 2003,138: 338-346 |
| broaderTransitive | |
| prefLabel | neuropathie autonome due à la maladie de fabry |
| browserUrl | NA |
| label | neuropathie autonome due à la maladie de fabry Autonomic neuropathy due to Fabry’s Disease αυτόνομο νευροπάθεια λόγω της κατασκευής της νόσου του δέρματος Autonome Neuropathie aufgrund von Fabry s Krankheit autonomiczna neuropatia z powodu choroby fabry 'ego |
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