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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| Other Authors: | , , |
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| Format: | Book Chapter |
| Published: |
Basel, Switzerland
MDPI - Multidisciplinary Digital Publishing Institute
2021
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| Subjects: | |
| Online Access: | Get Fullteks DOAB: description of the publication |
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| LEADER | 03096naaaa2200697uu 4500 | ||
|---|---|---|---|
| 001 | doab_20_500_12854_76581 | ||
| 005 | 20220111 | ||
| 020 | |a books978-3-0365-0581-7 | ||
| 020 | |a 9783036505800 | ||
| 020 | |a 9783036505817 | ||
| 024 | 7 | |a 10.3390/books978-3-0365-0581-7 |c doi | |
| 041 | 0 | |a English | |
| 042 | |a dc | ||
| 072 | 7 | |a TB |2 bicssc | |
| 100 | 1 | |a Hwu, Wuh-Liang |4 edt | |
| 700 | 1 | |a Chien, Yin-Hsiu |4 edt | |
| 700 | 1 | |a Wang, Raymond |4 edt | |
| 700 | 1 | |a Hwu, Wuh-Liang |4 oth | |
| 700 | 1 | |a Chien, Yin-Hsiu |4 oth | |
| 700 | 1 | |a Wang, Raymond |4 oth | |
| 245 | 1 | 0 | |a Newborn Screening for Pompe Disease |
| 260 | |a Basel, Switzerland |b MDPI - Multidisciplinary Digital Publishing Institute |c 2021 | ||
| 300 | |a 1 electronic resource (146 p.) | ||
| 506 | 0 | |a Open Access |2 star |f Unrestricted online access | |
| 520 | |a 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. | ||
| 540 | |a Creative Commons |f https://creativecommons.org/licenses/by/4.0/ |2 cc |4 https://creativecommons.org/licenses/by/4.0/ | ||
| 546 | |a English | ||
| 650 | 7 | |a Technology: general issues |2 bicssc | |
| 653 | |a Pompe disease | ||
| 653 | |a newborn screening | ||
| 653 | |a diagnosis | ||
| 653 | |a infantile onset Pompe disease | ||
| 653 | |a late onset Pompe disease | ||
| 653 | |a patient perspective | ||
| 653 | |a n/a | ||
| 653 | |a California | ||
| 653 | |a follow-up | ||
| 653 | |a pseudodeficiency | ||
| 653 | |a late-onset | ||
| 653 | |a infantile-onset | ||
| 653 | |a presymptomatic | ||
| 653 | |a c.-32-13T& | ||
| 653 | |a gt | ||
| 653 | |a G | ||
| 653 | |a infantile-onset Pompe disease | ||
| 653 | |a GAA sequencing | ||
| 653 | |a immune modulation therapy | ||
| 653 | |a enzyme replacement therapy | ||
| 653 | |a cross-reactive immunologic material | ||
| 653 | |a genotype-phenotype correlation | ||
| 653 | |a treatment and follow-up | ||
| 653 | |a lysosomal storage diseases | ||
| 653 | |a variant cut-off | ||
| 653 | |a next generation sequencing | ||
| 653 | |a dried blood spots | ||
| 653 | |a new disorders implementation | ||
| 653 | |a acid α-glucosidase | ||
| 653 | |a alpha glucosidase | ||
| 653 | |a Pompe disease diagnostics testing | ||
| 856 | 4 | 0 | |a www.oapen.org |u https://mdpi.com/books/pdfview/book/4026 |7 0 |z Get Fullteks |
| 856 | 4 | 0 | |a www.oapen.org |u https://directory.doabooks.org/handle/20.500.12854/76581 |7 0 |z DOAB: description of the publication |