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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| Materialtyp: | Online |
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| Språk: | engelska |
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MDPI - Multidisciplinary Digital Publishing Institute
2022
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| Länkar: | ONIX_20220111_9783036505800_316 |
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| _version_ | 1869517723675918336 |
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| collection | Directory of Open Access Books |
| description | 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. |
| format | Online |
| id | doab-20.500.12854ir-76581 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2022 |
| publishDateRange | 2022 |
| publishDateSort | 2022 |
| publisher | MDPI - Multidisciplinary Digital Publishing Institute |
| publisherStr | MDPI - Multidisciplinary Digital Publishing Institute |
| record_format | ojs |
| spelling | doab-20.500.12854ir-765812024-04-09T23:16:30Z Newborn Screening for Pompe Disease Hwu, Wuh-Liang Chien, Yin-Hsiu Wang, Raymond 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 thema EDItEUR::T Technology, Engineering, Agriculture, Industrial processes::TB Technology: general issues 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. 2022-01-11T13:36:09Z 2022-01-11T13:36:09Z 2021 book ONIX_20220111_9783036505800_316 9783036505800 9783036505817 https://directory.doabooks.org/handle/20.500.12854/76581 eng image/jpeg Attribution 4.0 International https://mdpi.com/books/pdfview/book/4026 https://mdpi.com/books/pdfview/book/4026 MDPI - Multidisciplinary Digital Publishing Institute 10.3390/books978-3-0365-0581-7 10.3390/books978-3-0365-0581-7 46cabcaa-dd94-4bfe-87b4-55023c1b36d0 9783036505800 9783036505817 146 Basel, Switzerland open access |
| spellingShingle | 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 thema EDItEUR::T Technology, Engineering, Agriculture, Industrial processes::TB Technology: general issues Newborn Screening for Pompe Disease |
| title | Newborn Screening for Pompe Disease |
| title_full | Newborn Screening for Pompe Disease |
| title_fullStr | Newborn Screening for Pompe Disease |
| title_full_unstemmed | Newborn Screening for Pompe Disease |
| title_short | Newborn Screening for Pompe Disease |
| title_sort | newborn screening for pompe disease |
| topic | 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 thema EDItEUR::T Technology, Engineering, Agriculture, Industrial processes::TB Technology: general issues |
| topic_facet | 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 thema EDItEUR::T Technology, Engineering, Agriculture, Industrial processes::TB Technology: general issues |
| url | ONIX_20220111_9783036505800_316 |