Fabry-betegség: Diagnosztikai útmutató

Tamás Constantin, Éiva Rákóczi, Andrea Ponyi, Csaba Ambrus, Krisztina Kádár, Ildikó Vastagh, Angéla Dajnoki, Beáta Tóth, Gergely Bokrétás, Veronika Müller, Mária Katona, Márta Csikós, Orsolya Fiedler, Rita Széchey, Edit Varga, Gábor Rudas, Attila Kertész, Sándor Molnár, Sarolta Kárpáti, Viktor NagyPál Magyar, Mohamed Mahdi, Krisztina Németh, Dániel Bereczki, Miklós Garami, Melinda Erdos, László Maródi, György Fekete

Research output: Review article

2 Citations (Scopus)


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, first symptoms usually present in childhood. Consequencies of the diseases are disability and premature death. The disease in females could be as severe as in males although women may also 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 was established by a Hungarian multi-disciplinary working group, consisting of physicians who are involved in health care of Fabry patients. Previous clinical studies, published materials, and recently established international treatment guidelines were reviewed by the group.

Translated title of the contributionFabry disease diagnostic guideline
Original languageHungarian
Pages (from-to)243-249
Number of pages7
JournalOrvosi hetilap
Issue number7
Publication statusPublished - febr. 1 2010


  • Diagnosis
  • Enzyme replacement therapy
  • Fabry disease

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Constantin, T., Rákóczi, É., Ponyi, A., Ambrus, C., Kádár, K., Vastagh, I., Dajnoki, A., Tóth, B., Bokrétás, G., Müller, V., Katona, M., Csikós, M., Fiedler, O., Széchey, R., Varga, E., Rudas, G., Kertész, A., Molnár, S., Kárpáti, S., ... Fekete, G. (2010). Fabry-betegség: Diagnosztikai útmutató. Orvosi hetilap, 151(7), 243-249. https://doi.org/10.1556/OH.2010.28795