Newborn Screening for Pompe Disease

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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Bibliographic Details
Other Authors: Hwu, Wuh-Liang (Editor), Chien, Yin-Hsiu (Editor), Wang, Raymond (Editor)
Format: Book Chapter
Published: Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute 2021
Subjects:
Technology: general issues
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
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