03070nam 2200757z- 450 991055749460332120220111(CKB)5400000000042885(oapen)https://directory.doabooks.org/handle/20.500.12854/76581(oapen)doab76581(EXLCZ)99540000000004288520202201d2021 |y 0engurmn|---annantxtrdacontentcrdamediacrrdacarrierNewborn Screening for Pompe DiseaseBasel, SwitzerlandMDPI - Multidisciplinary Digital Publishing Institute20211 online resource (146 p.)3-0365-0580-6 3-0365-0581-4 Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment. The development of treatment with recombinant enzyme replacement therapy radically transformed the clinical trajectory of those affected, enabling long-term ventilator-free survival with resolution of cardiomyopathy. These positive clinical outcomes resulted in the implementation of newborn screening programs for Pompe disease across the world. This Special Issue highlights some of the experiences of Pompe screening programs worldwide and discusses public policy and ethical issues elicited by presymptomatic screening for Pompe disease.Technology: general issuesbicsscacid α-glucosidasealpha glucosidasec.-32-13T&ampCaliforniacross-reactive immunologic materialdiagnosisdried blood spotsenzyme replacement therapyfollow-upGGAA sequencinggenotype-phenotype correlationgtimmune modulation therapyinfantile onset Pompe diseaseinfantile-onsetinfantile-onset Pompe diseaselate onset Pompe diseaselate-onsetlysosomal storage diseasesn/anew disorders implementationnewborn screeningnext generation sequencingpatient perspectivePompe diseasePompe disease diagnostics testingpresymptomaticpseudodeficiencytreatment and follow-upvariant cut-offTechnology: general issuesHwu Wuh-Liangedt1302774Chien Yin-HsiuedtWang RaymondedtHwu Wuh-LiangothChien Yin-HsiuothWang RaymondothBOOK9910557494603321Newborn Screening for Pompe Disease3026551UNINA