Gergely Bokrétás

Publications (2)0 Total impact

• Article: [Management of Fabry disease].

  Tamás Constantin, Annamária Székely, Andrea Ponyi, Vera Gulácsy, Csaba Ambrus, Krisztina Kádár, Ildikó Vastagh, Angéla Dajnoki, Beáta Tóth, Gergely Bokrétás, [......], Viktor Nagy, Pál Magyar, Mohamed Mahdi, Eva Rákóczi, Krisztina Németh, Dániel Bereczki, Miklós Garami, Melinda Erdos, László Maródi, György Fekete
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  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.
  Orvosi Hetilap 08/2010; 151(31):1243-51.
• Article: [Fabry disease--diagnostic guideline].

  Tamás Constantin, Eva Rákóczi, Andrea Ponyi, Csaba Ambrus, Krisztina Kádár, Ildikó Vastagh, Angéla Dajnoki, Beáta Tóth, Gergely Bokrétás, Veronika Müller, [......], Sarolta Kárpáti, Viktor Nagy, Pál Magyar, Mohamed Mahdi, Krisztina Németh, Dániel Bereczki, Miklós Garami, Melinda Erdos, László Maródi, György Fekete
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  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.
  Orvosi Hetilap 02/2010; 151(7):243-9.