NGS-based panel screening of suspected lysosomal disease cases identifies novel pathogenic variants underlying acid sphingomyelinase deficiency (ASMD), Krabbe disease, and lymphati... von del Castillo, Francisco J., Muñoz, Gloria, Domínguez-Ruiz, María, Ciubotariu, Crina, Piris-Villaespesa, Miguel, Ley, Myriam, Gainza, Eukene, Unceta, Maria, Ceberio, Leticia, Fdil, Naima, Ross, Mariken, Belanger, Amaya, Villarrubia, Jesús

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Adult acid sphingomyelinase deficiency (Niemann-Pick disease type B): A difficult pathway to a diagnosis in 4 novel cases von Villarrubia, Jesús, Muñoz, Gloria, Ciubotariu, Crina, Domínguez-Ruiz, María, Piris-Villaespesa, Miguel, Unceta, María, Ceberio, Leticia, Church, Heather, Norouzi, Mohsen, Ross, Mariken, Pedro, Iván Pérez-de, Stepien, Karolina M., del Castillo, Francisco J.

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