Newborn Screening for Pompe Disease

• Otros Autores: Hwu, Wuh-Liang (Editor), Chien, Yin-Hsiu (Editor), Wang, Raymond (Editor)
• Formato: Electrónico Capítulo de libro
• Lenguaje: inglés
• Publicado: Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute 2021
• Materias: 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& 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
• Acceso en línea: DOAB: download the publication; DOAB: description of the publication

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...