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First pilot newborn screening for four lysosomal storage diseases in an Italian region: Identification and analysis of a putative causative mutation in the GBA gene

Genetic TestingNewborn ScreeningItalian RegionMendelian DisorderGenetic DisorderGeneticsGenetic EpidemiologyPediatricsPathologyFirst PilotMolecular GeneticsGba GeneDisease Gene IdentificationMedicineLysosomal Storage Disease