| Autor: |
Michał, Owsiak, Agnieszka, Kwiecień-Sobstel, Ewa, Mirek-Bryniarska, Leszek, Bryniarski |
| Rok vydání: |
2011 |
| Předmět: |
|
| Zdroj: |
Kardiologia polska. 69(4) |
| ISSN: |
1897-4279 |
| Popis: |
Fabry disease is a rare X-linked recessive lysosomal storage disease, which can cause a wide range of systemic symptoms. A deficiency of the enzyme alpha galactosidase A due to mutation causes a glycolipid to accumulate within the blood vessels, other tissues, and organs. This accumulation leads to an impairment of proper heart function. Wide range of symptoms makes diagnosis difficult. We present a case of a 43 year-old male with typical Fabry disease. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
|
