Fabry-betegség - Terápiás útmutató

Translated title of the contribution: Management of Fabry disease

T. Constantin, Annamária Székely, A. Ponyi, Vera Gulácsy, C. Ambrus, Krisztina Kádár, Ildikó Vastagh, Angéla Dajnoki, B. Tóth, Gergely Bokrétás, V. Müller, Mária Katona, Márta Medvecz, Orsolya Fiedler, Rita Széchey, Edit Varga, Gábor Rudas, Attila Kertész, Sándor Molnár, S. KárpátiViktor Nagy, P. Magyar, Mohamed Mahdi, Eva Rákóczi, Krisztina Németh, D. Bereczki, M. Garami, M. Erdős, L. Máródi, G. Fekete

Research output: Contribution to journalArticle

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.

Original languageHungarian
Pages (from-to)1243-1251
Number of pages9
JournalOrvosi Hetilap
Volume151
Issue number31
DOIs
Publication statusPublished - Aug 1 2010

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Fabry Disease
Guidelines
Enzyme Replacement Therapy
Premature Mortality
Patient Care
Physicians
Therapeutics

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Fabry-betegség - Terápiás útmutató. / Constantin, T.; Székely, Annamária; Ponyi, A.; Gulácsy, Vera; Ambrus, C.; Kádár, Krisztina; Vastagh, Ildikó; Dajnoki, Angéla; Tóth, B.; Bokrétás, Gergely; Müller, V.; Katona, Mária; Medvecz, Márta; Fiedler, Orsolya; Széchey, Rita; Varga, Edit; Rudas, Gábor; Kertész, Attila; Molnár, Sándor; Kárpáti, S.; Nagy, Viktor; Magyar, P.; Mahdi, Mohamed; Rákóczi, Eva; Németh, Krisztina; Bereczki, D.; Garami, M.; Erdős, M.; Máródi, L.; Fekete, G.

In: Orvosi Hetilap, Vol. 151, No. 31, 01.08.2010, p. 1243-1251.

Research output: Contribution to journalArticle

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, Kárpáti, S, Nagy, V, Magyar, P, Mahdi, M, Rákóczi, E, Németh, K, Bereczki, D, Garami, M, Erdős, M, Máródi, L & Fekete, G 2010, 'Fabry-betegség - Terápiás útmutató', Orvosi Hetilap, vol. 151, no. 31, pp. 1243-1251. https://doi.org/10.1556/OH.2010.28796
Constantin, T. ; Székely, Annamária ; Ponyi, A. ; Gulácsy, Vera ; Ambrus, C. ; Kádár, Krisztina ; Vastagh, Ildikó ; Dajnoki, Angéla ; Tóth, B. ; Bokrétás, Gergely ; Müller, V. ; Katona, Mária ; Medvecz, Márta ; Fiedler, Orsolya ; Széchey, Rita ; Varga, Edit ; Rudas, Gábor ; Kertész, Attila ; Molnár, Sándor ; Kárpáti, S. ; Nagy, Viktor ; Magyar, P. ; Mahdi, Mohamed ; Rákóczi, Eva ; Németh, Krisztina ; Bereczki, D. ; Garami, M. ; Erdős, M. ; Máródi, L. ; Fekete, G. / Fabry-betegség - Terápiás útmutató. In: Orvosi Hetilap. 2010 ; Vol. 151, No. 31. pp. 1243-1251.
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