Busch, Volker and May, Arne (2003) Fabry's disease - A rare lipidosis with multiple neurological complications. AKTUELLE NEUROLOGIE, 30 (6). pp. 296-301. ISSN 0302-4350
Full text not available from this repository.Abstract
Fabry disease is a X-linked recessively inherited metabolic disorder, resulting in a deficient activity of the lysosomal hydrolase a-galactosidase A leading to systemic deposition of glycosphingolipids and multiple organic lesions with a fatal clinical progress in the fourth or fifth decade. We report about a 33-year old male patient with Fabry's disease and typical neurological complications of cerebrovascular events in adolescense and recurrent excruciating pain episodes involving the extremities. Clinical symptoms and diagnostic procedures of this rare metabolic disease will be described. From a therapeutic point of view, the availability of a new enzyme replacement therapy is an important breakthrough for patients with Fabry disease.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | ENZYME REPLACEMENT THERAPY; CEREBRAL BLOOD-FLOW; ALPHA-GALACTOSIDASE; PAINFUL CRISES; CARBAMAZEPINE; HETEROZYGOTE; DYSFUNCTION; INVOLVEMENT; DIAGNOSIS; MUTATION; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Neurologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 03 Sep 2021 08:08 |
| Last Modified: | 03 Sep 2021 08:08 |
| URI: | https://pred.uni-regensburg.de/id/eprint/38736 |
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