دورية أكاديمية
[Guidelines for diagnosis, monitoring and treatment of Fabry disease].
العنوان: | [Guidelines for diagnosis, monitoring and treatment of Fabry disease]. |
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عنوان ترانسليتريتد: | Guía para el diagnóstico, seguimiento y tratamiento de la enfermedad de Fabry. |
المؤلفون: | Neumann P, Antongiovanni N, Fainboim A, Kisinovsky I, Amartino H, Cabrera G, Carmona S, Ceci R, Cicerán A, Choua M, Doxastakis G, De Maio S, Ebner R, Escobar AM, Ferrari G, Forrester M, Guelbert N, Luna P, Marchesoni C, Masllorens F, Politei J, Reisin R, Ripeau D, Rozenfeld P, Serebrinsky G, Tarabuso AL, Trípoli J |
مؤلفون مشاركون: | Consenso de Médicos de AADELFA y GADYTEF; Hospital Italiano de La Plata. E-mail: pabneumann@yahoo.com.ar. |
المصدر: | Medicina [Medicina (B Aires)] 2013; Vol. 73 (5), pp. 482-94. |
نوع المنشور: | English Abstract; Journal Article; Practice Guideline; Research Support, Non-U.S. Gov't |
اللغة: | Spanish; Castilian |
بيانات الدورية: | Publisher: Fundación Revista Medicina (Buenos Aires) Country of Publication: Argentina NLM ID: 0204271 Publication Model: Print Cited Medium: Print ISSN: 0025-7680 (Print) Linking ISSN: 00257680 NLM ISO Abbreviation: Medicina (B Aires) Subsets: MEDLINE |
أسماء مطبوعة: | Publication: Buenos Aires : Fundación Revista Medicina (Buenos Aires) Original Publication: Buenos Aires. |
مواضيع طبية MeSH: | Fabry Disease/*diagnosis , Fabry Disease/*therapy, Age Factors ; Enzyme Replacement Therapy ; Fabry Disease/physiopathology ; Female ; Humans ; Male ; Time Factors |
مستخلص: | Fabry disease is an X-linked hereditary lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A. Knowledge about this disease, and its medical management, has made remarkable progress in the last decade, including the development of its specific treatment. This guide was developed by medical professionals from various specialties involved in the care of patients with Fabry disease. The discussion and analysis of the available scientific evidence, coupled with the experience of each of the participants, has allowed us to develop the concepts included in this guide in order to provide a useful tool for all professionals who care for patients with Fabry disease. |
فهرسة مساهمة: | Keywords: Fabry disease; diagnosis; enzyme replacement therapy; guide; monitoring |
تواريخ الأحداث: | Date Created: 20131025 Date Completed: 20140818 Latest Revision: 20131024 |
رمز التحديث: | 20240628 |
PMID: | 24152410 |
قاعدة البيانات: | MEDLINE |
تدمد: | 0025-7680 |
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