Next-generation sequencing and high-throughput enzymolomebased panel screening of suspected lysosomal disease cases identifies multiple disease-causing variants in two genes underlying different lysosomal diseases: A source of clinical and metabolic variability?

Auteur

Francisco J. del Castillo , María Domínguez-Ruiz , Miloud Hammoud , Magdalena A. Ortiz-Galeana , Imane Assiri , Miguel PirisVillaespesa , Joaquín Carrillo-Farga , Naima Fdil , Robert Jenkins , Manuel Ferreri , Jesus Villarrubia Espinosa

Manifestation

19th annual WORLD Symposium™ 2022

Date

2023-02-22

Organisation

San Diego, California, USA