TY - JOUR
T1 - Consenso de expertos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento de enfermedad de Fabry en pediatría
AU - Rodríguez, Richard Baquero
AU - Gayubo, Ana Katherina Serrano
AU - Prieto, Juan Carlos
AU - Aguilera, Juan Guillermo Cárdenas
AU - Cuéllar, Carmen Inés Rodríguez
AU - Ávila, María Fernanda Reina
AU - Capacho, Mayra Alexandra Estévez
AU - Mateus, Heidy
AU - González, Maylin Valencia
AU - Acevedo, Kelly Rocío Chacón
AU - Sepúlveda, María Paula Gutiérrez
AU - Germain, Dominique Paul
AU - Politei, Juan Manuel
AU - Fainboim, Alejandro Fabián
AU - Rodríguez, Magdalena Cerón
AU - Cabrera, Gustavo
AU - Ospina, Edicson Ruiz
AU - Guzmán, Martha Isabel Carrascal
AU - Cáceres, Lida Esperanza Martínez
AU - Lagos, Sandra Yaneth Ospina
AU - Trimarchi, Hernán
AU - Liern, José Miguel
N1 - Publisher Copyright:
© 2023, Universidad del Rosario. All rights reserved.
PY - 2023/9/1
Y1 - 2023/9/1
N2 - Background: Fabry disease (FD) is a rare X-linked disease characterized by the accumulation of glyco-sphingolipids in lysosomes due to the deficiency in the production of alpha-galactosidase A (α-Gal A) enzyme. Despite its low frequency, this disease has a serious impact on the life expectancy and quality. Objective: To make evidence-based recommendations for the diagnosis and treatment of FD in pediatric FD in Colombia and Latin America and clinical decision-making for disease management. Notably, making an early diagnosis ensures a reduction in the impact of this disease on the quality of life of patients and their families.
AB - Background: Fabry disease (FD) is a rare X-linked disease characterized by the accumulation of glyco-sphingolipids in lysosomes due to the deficiency in the production of alpha-galactosidase A (α-Gal A) enzyme. Despite its low frequency, this disease has a serious impact on the life expectancy and quality. Objective: To make evidence-based recommendations for the diagnosis and treatment of FD in pediatric FD in Colombia and Latin America and clinical decision-making for disease management. Notably, making an early diagnosis ensures a reduction in the impact of this disease on the quality of life of patients and their families.
KW - Fabry disease
KW - biomarkers
KW - child
KW - diagnosis
KW - therapeutics
UR - http://www.scopus.com/inward/record.url?scp=85176472241&partnerID=8YFLogxK
U2 - 10.12804/revistas.urosario.edu.co/revsalud/a.12504
DO - 10.12804/revistas.urosario.edu.co/revsalud/a.12504
M3 - Artículo
AN - SCOPUS:85176472241
SN - 1692-7273
VL - 21
JO - Revista Ciencias de la Salud
JF - Revista Ciencias de la Salud
IS - 3
ER -
