Newborn Screening for Pompe Disease

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 re...

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Detalhes bibliográficos
Formato:	Online
Idioma:	inglês
Publicado em:	MDPI - Multidisciplinary Digital Publishing Institute 2022
Assuntos:	Pompe disease newborn screening diagnosis infantile onset Pompe disease late onset Pompe disease patient perspective n/a California follow-up pseudodeficiency late-onset infantile-onset presymptomatic c.-32-13T&amp gt G infantile-onset Pompe disease GAA sequencing immune modulation therapy enzyme replacement therapy cross-reactive immunologic material genotype-phenotype correlation treatment and follow-up lysosomal storage diseases variant cut-off next generation sequencing dried blood spots new disorders implementation acid α-glucosidase alpha glucosidase Pompe disease diagnostics testing thema EDItEUR::T Technology, Engineering, Agriculture, Industrial processes::TB Technology: general issues
Acesso em linha:	ONIX_20220111_9783036505800_316
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Descrição
Resumo:	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.

Newborn Screening for Pompe Disease

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