Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V.
Jorge Diogo Da SilvaÂngela PereiraAna Rita SoaresArlindo GuimasSara RochaMárcio CardosoCristina GarridoCélia Azevedo SoaresIsabel Serra NunesAna Maria FortunaDulce QuelhasSónia FigueiroaRosa RibeiroManuela SantosEsmeralda MartinsNataliya TkachenkoPublished in: Pediatric research (2023)
GSDV is a pediatric-onset metabolic disorder that is mostly diagnosed late in the adult age and commonly misdiagnosed. We observed the first genotype-phenotype correlation in GSDV, regarding the common R50* variant. Awareness of GSDV for pediatricians and the overall medical community is vital.