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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Bibliografiset tiedot
Aineistotyyppi:	Online
Kieli:	englanti
Julkaistu:	MDPI - Multidisciplinary Digital Publishing Institute 2022
Aiheet:	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
Linkit:	ONIX_20220111_9783036505800_316
Tagit:	Lisää tagi Ei tageja, Lisää ensimmäinen tagi!

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ONIX_20220111_9783036505800_316

Newborn Screening for Pompe Disease

Internet

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