Fabry disease--guidelines for diagnosis and management of adult patients

Early diagnosis and management of patients with Fabry disease (FD) requires a multidisciplinary approach of several different experts. The aim of this document is to provide health care professionals with guidelines for management of adult patients with Fabry disease. These guidelines were produced...

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Veröffentlicht in:Liječnički vjesnik 2014-05, Vol.136 (5-6), p.133
Hauptverfasser: Merkler, Marijan, Pećin, Ivan, Simić, Iveta, Muacević-Katanec, Diana, Sućur, Nediljko, Reiner, Zeljko
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container_issue 5-6
container_start_page 133
container_title Liječnički vjesnik
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creator Merkler, Marijan
Pećin, Ivan
Simić, Iveta
Muacević-Katanec, Diana
Sućur, Nediljko
Reiner, Zeljko
description Early diagnosis and management of patients with Fabry disease (FD) requires a multidisciplinary approach of several different experts. The aim of this document is to provide health care professionals with guidelines for management of adult patients with Fabry disease. These guidelines were produced by the staff of the Division of Metabolic Diseases, Department of Internal Medicine, University Hospital Center Zagreb, which is the Referral Expert Center for Rare and Metabolic Diseases of the Ministry of Health, Republic of Croatia. The first guidelines ever published in Croatia concerning a rare metabolic disease are presented. This document provides a short summary on Fabry disease, how to diagnose Fabry disease, management of patients with this disease, follow-up of the patients, and gives recommendations on therapy and genetic testing.
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subjects Adult
alpha-Galactosidase - therapeutic use
Croatia
Fabry Disease - diagnosis
Fabry Disease - genetics
Fabry Disease - therapy
Genetic Counseling - methods
Genetic Testing
Humans
Interprofessional Relations
Isoenzymes - therapeutic use
Life Expectancy
Practice Guidelines as Topic
Quality of Life
Societies, Medical - standards
title Fabry disease--guidelines for diagnosis and management of adult patients
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