NGS-based panel screening of suspected lysosomal disease cases identifies novel pathogenic variants underlying acid sphingomyelinase deficiency (ASMD), Krabbe disease, and lymphatic dysplasia with non-immune hydrops fetalis

Auteur

Francisco J.del Castillo, Gloria Muñoz, María Domínguez,Ruiza Crina, Ciubotariua Miguel,Piris-Villa espesa, Myriam Ley, Eukene Gainza, Maria Unceta, Leticia Ceberio, Naima Fdil, Mariken Ross, Amaya Belanger, JesúsVillarrubia

Manifestation

18th Annual WORLD Symposium™ 2022

Date

2022-02-7

Organisation

in San Diego, California, USA