Fabry-betegség

Diagnosztikai útmutató

T. Constantin, Éiva Rákóczi, A. Ponyi, C. Ambrus, Krisztina Kádár, Ildikó Vastagh, Angéla Dajnoki, B. Tóth, Gergely Bokrétás, V. Müller, Mária Katona, M. Csikós, Orsolya Fiedler, Rita Széchey, Edit Varga, Gábor Rudas, Attila Kertész, Sándor Molnár, S. Kárpáti, Viktor Nagy & 8 others P. Magyar, Mohamed Mahdi, Krisztina Németh, D. Bereczki, M. Garami, M. Erdős, L. Máródi, G. Fekete

Research output: Article

2 Citations (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, 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.

Original languageHungarian
Pages (from-to)243-249
Number of pages7
JournalOrvosi Hetilap
Volume151
Issue number7
DOIs
Publication statusPublished - febr. 1 2010

Fingerprint

Fabry Disease
Guidelines
Enzyme Replacement Therapy
Premature Mortality
Delivery of Health Care
Physicians
Therapeutics

Keywords

  • Diagnosis
  • Enzyme replacement therapy
  • Fabry disease

ASJC Scopus subject areas

  • Medicine(all)

Cite this

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

In: Orvosi Hetilap, Vol. 151, No. 7, 01.02.2010, p. 243-249.

Research output: Article

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, Nagy, V, Magyar, P, Mahdi, M, Németh, K, Bereczki, D, Garami, M, Erdős, M, Máródi, L & Fekete, G 2010, 'Fabry-betegség: Diagnosztikai útmutató', Orvosi Hetilap, vol. 151, no. 7, pp. 243-249. https://doi.org/10.1556/OH.2010.28795
Constantin, T. ; Rákóczi, Éiva ; Ponyi, A. ; Ambrus, C. ; Kádár, Krisztina ; Vastagh, Ildikó ; Dajnoki, Angéla ; Tóth, B. ; Bokrétás, Gergely ; Müller, V. ; Katona, Mária ; Csikós, M. ; Fiedler, Orsolya ; Széchey, Rita ; Varga, Edit ; Rudas, Gábor ; Kertész, Attila ; Molnár, Sándor ; Kárpáti, S. ; Nagy, Viktor ; Magyar, P. ; Mahdi, Mohamed ; Németh, Krisztina ; Bereczki, D. ; Garami, M. ; Erdős, M. ; Máródi, L. ; Fekete, G. / Fabry-betegség : Diagnosztikai útmutató. In: Orvosi Hetilap. 2010 ; Vol. 151, No. 7. pp. 243-249.
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AU - Mahdi, Mohamed

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