title: [Guidelines for diagnosis, monitoring and treatment of Fabry disease].
abstract: 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.
authors.affiliation: Hospital Italiano de La Plata. E-mail: pabneumann@yahoo.com.ar.
authors.forename: Pablo
authors.initials: P
authors.lastname: Neumann
authors.forename: Norberto
authors.initials: N
authors.lastname: Antongiovanni
authors.forename: Alejandro
authors.initials: A
authors.lastname: Fainboim
authors.forename: Isaac
authors.initials: I
authors.lastname: Kisinovsky
authors.forename: Hernán
authors.initials: H
authors.lastname: Amartino
authors.forename: Gustavo
authors.initials: G
authors.lastname: Cabrera
authors.forename: Sergio
authors.initials: S
authors.lastname: Carmona
authors.forename: Romina
authors.initials: R
authors.lastname: Ceci
authors.forename: Alberto
authors.initials: A
authors.lastname: Cicerán
authors.forename: Martín
authors.initials: M
authors.lastname: Choua
authors.forename: Griselda
authors.initials: G
authors.lastname: Doxastakis
authors.forename: Sonia
authors.initials: S
authors.lastname: De Maio
authors.forename: Roberto
authors.initials: R
authors.lastname: Ebner
authors.forename: Ana María
authors.initials: AM
authors.lastname: Escobar
authors.forename: Gustavo
authors.initials: G
authors.lastname: Ferrari
authors.forename: Mariano
authors.initials: M
authors.lastname: Forrester
authors.forename: Norberto
authors.initials: N
authors.lastname: Guelbert
authors.forename: Paula
authors.initials: P
authors.lastname: Luna
authors.forename: Cinthia
authors.initials: C
authors.lastname: Marchesoni
authors.forename: Francisca
authors.initials: F
authors.lastname: Masllorens
authors.forename: Juan
authors.initials: J
authors.lastname: Politei
authors.forename: Ricardo
authors.initials: R
authors.lastname: Reisin
authors.forename: Diego
authors.initials: D
authors.lastname: Ripeau
authors.forename: Paula
authors.initials: P
authors.lastname: Rozenfeld
authors.forename: Graciela
authors.initials: G
authors.lastname: Serebrinsky
authors.forename: Ana Lía
authors.initials: AL
authors.lastname: Tarabuso
authors.forename: Juan
authors.initials: J
authors.lastname: Trípoli
mesh_terms: D000367:Age Factors; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy*; D005260:Female; D006801:Humans; D008297:Male; D013997:Time Factors
keywords: Fabry disease; diagnosis; enzyme replacement therapy; guide; monitoring