Lessons Learned from Pompe Disease Newborn Screening and Follow-up
| العنوان: | Lessons Learned from Pompe Disease Newborn Screening and Follow-up |
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| المؤلفون: | Candice Brannen, Jami Kiesling, Jon Washburn, Lori B Swartz, Tracy Klug |
| المصدر: | International Journal of Neonatal Screening International Journal of Neonatal Screening, Vol 6, Iss 1, p 11 (2020) Volume 6 Issue 1 |
| بيانات النشر: | MDPI AG, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | 0301 basic medicine, Pediatrics, medicine.medical_specialty, Newborn screening, newborn screening, business.industry, Public health, lcsh:RJ1-570, Pompe disease, Obstetrics and Gynecology, lcsh:Pediatrics, Disease, 030105 genetics & heredity, Article, 03 medical and health sciences, 0302 clinical medicine, Immunology and Microbiology (miscellaneous), pseudodeficiency, Pediatrics, Perinatology and Child Health, Pseudodeficiency alleles, follow-up, medicine, Clinical phenotype, business, 030217 neurology & neurosurgery |
| الوصف: | In 2015, Pompe disease became the first lysosomal storage disorder to be recommended for universal newborn screening by the Secretary of the U.S. Department of Health and Human Services. Newborn screening for Pompe has been implemented in 20 states and several countries across the world. The rates of later-onset disease phenotypes for Pompe and pseudodeficiency alleles are higher than initially anticipated, and these factors must be considered during Pompe disease newborn screening. This report presents an overview of six years of data from the Missouri State Public Health Laboratory for Pompe disease newborn screening and follow-up. |
| وصف الملف: | application/pdf |
| تدمد: | 2409-515X |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9755e25b758424fb8f25f03b3e8801f1 https://doi.org/10.3390/ijns6010011 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....9755e25b758424fb8f25f03b3e8801f1 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 2409515X |
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