Fabry-betegség - Terápiás útmutató

Tamás Constantin, Annamária Székely, Andrea Ponyi, Vera Gulácsy, Csaba Ambrus, Krisztina Kádár, Ildikó Vastagh, Angéla Dajnoki, Beáta Tóth, Gergely Bokrétás, Veronika Müller, Mária Katona, Márta Medvecz, Orsolya Fiedler, Rita Széchey, Edit Varga, Gábor Rudas, Attila Kertész, Sándor Molnár, Sarolta KárpátiViktor Nagy, Pál Magyar, Mohamed Mahdi, Eva Rákóczi, Krisztina Németh, Dániel Bereczki, Miklós Garami, Melinda Erdos, László Maródi, György Fekete

Research output: Review article

1 Citation (Scopus)

Abstract

Fabry disease is a rare, X-linked lysosomal storage disorder that leads to accumulation of globotriaosylceramide in different tissues of the body. The disease is progressive and the first symptoms usually present in childhood. Consequences of the disease are disability and premature death. The disease in females could be as severe as in males although women may be asymptomatic. The possibility of enzyme replacement therapy has made it necessary to elaborate a comprehensive guideline for the diagnosis and treatment follow-up. The guideline has been summarized by a Hungarian multi-disciplinary working group consisting of physicians who are involved in diagnosis and care of Fabry patients. Previous clinical studies, published articles, and recently established international treatment guidelines were reviewed by the group.

Translated title of the contributionManagement of Fabry disease
Original languageHungarian
Pages (from-to)1243-1251
Number of pages9
JournalOrvosi hetilap
Volume151
Issue number31
DOIs
Publication statusPublished - aug. 1 2010

Keywords

  • Fabry disease
  • diagnosis
  • enzyme replacement therapy

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Constantin, T., Székely, A., Ponyi, A., Gulácsy, V., Ambrus, C., Kádár, K., Vastagh, I., Dajnoki, A., Tóth, B., Bokrétás, G., Müller, V., Katona, M., Medvecz, M., Fiedler, O., Széchey, R., Varga, E., Rudas, G., Kertész, A., Molnár, S., ... Fekete, G. (2010). Fabry-betegség - Terápiás útmutató. Orvosi hetilap, 151(31), 1243-1251. https://doi.org/10.1556/OH.2010.28796