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
Corporate Authors: Hwu, Wuh-Liang, Chien, Yin-Hsiu, Wang, Raymond
Formato: Livro
Idioma:Inglês
Publicado em: MDPI - Multidisciplinary Digital Publishing Institute 2021
Assuntos:
thema EDItEUR::T Technology, Engineering, Agriculture, Industrial processes::TB 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
Acesso em linha:https://directory.doabooks.org/handle/20.500.12854/76581
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