INVESTIGADORES
ASTEGGIANO Carla Gabriela
congresos y reuniones científicas
Título:
ARGENTINEAN PROGRAM FOR THE DIAGNOSIS AND RESEARCH OF CONGENITAL DISORDER OF GLYCOSYLATION
Autor/es:
BISTUÉ MILLÓN MB.(1); DELGADO MA.(1) ;STURIALE L.(2) ;MATTHIJS G.(3) ;JAEKEN J.(4); DODELSON DE KREMER R.(1); ASTEGGIANO CG.(1,5,6).
Lugar:
Cusco
Reunión:
Congreso; VIII Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquiza Neonatal; 2011
Institución organizadora:
SLEIMPN
Resumen:
Congenital Disorders of Glycosylation (CDG) are a growing group of hereditary diseases caused by abnormal protein or lipid glycosylation defects. The phenotypic spectrum is highly variable, ranging from severe multisystem disorders to alteration of specific organs such as multiple osteochondromatosis (EXT1/EXT2-CDG). There is still a large group of unsolved cases with altered glycosylation patterns classified as CDG-x.Aim: Communicate the advances for CDG research program, as a reference center in Argentina.
