Explore
Newborn Screening for Pompe Disease
0 Ungluers have
Faved this Work
Login to Fave
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.
This book is included in DOAB.
Why read this book? Have your say.
You must be logged in to comment.
Rights Information
Are you the author or publisher of this work? If so, you can claim it as yours by registering as an Unglue.it rights holder.Downloads
This work has been downloaded 35 times via unglue.it ebook links.
- 35 - pdf (CC BY) at Unglue.it.
Keywords
- acid α-glucosidase
- alpha glucosidase
- c.-32-13T&
- California
- cross-reactive immunologic material
- Diagnosis
- dried blood spots
- enzyme replacement therapy
- follow-up
- G
- GAA sequencing
- genotype-phenotype correlation
- GT
- immune modulation therapy
- infantile onset Pompe disease
- infantile-onset
- infantile-onset Pompe disease
- late onset Pompe disease
- late-onset
- lysosomal storage diseases
- n/a
- new disorders implementation
- newborn screening
- next generation sequencing
- patient perspective
- Pompe disease
- Pompe disease diagnostics testing
- presymptomatic
- pseudodeficiency
- Technology, engineering, agriculture
- Technology: general issues
- treatment and follow-up
- variant cut-off
Links
DOI: 10.3390/books978-3-0365-0581-7Editions