A novel mutation of the GAA gene in a patient with early-onset pompe disease lacking a disease-specific pathology

Kilic B.Kartal C.A.2024-08-042024-08-0420161015-8146https://hdl.handle.net/11616/90813[No abstract available]eninfo:eu-repo/semantics/closedAccessaminotransferasecreatine kinaseglucan 1,4 alpha glucosidasealpha glucosidaseGAA protein, humanaminotransferase blood levelcase reportcreatine kinase blood leveldisease severityechocardiographyenzyme activityenzyme replacementgene mutationgenetic analysisglycogen storage disease type 2heart ejection fractionheart failurehepatomegalyhomozygotehumanhypertrophic cardiomyopathyinfantLettermalemissense mutationmotor developmentmuscle hypotoniamuscle weaknessneurologic examinationsystolic heart murmurtendon reflexvaginal deliverygeneticsglycogen storage disease type 2pathologypathophysiologyalpha-GlucosidasesGlycogen Storage Disease Type IIHumansInfantMaleMutation, MissenseA novel mutation of the GAA gene in a patient with early-onset pompe disease lacking a disease-specific pathologyLetter272255257294858332-s2.0-85016183953N/A