Newborn Screening for Pompe Disease
نویسندگان
چکیده
منابع مشابه
Newborn Screening for Pompe Disease.
Started in 1963 by Robert Guthrie, newborn screening (NBS) is considered to be one of the great public health achievements. Its original goal was to screen newborns for conditions that could benefit from presymptomatic treatment, thereby reducing associated morbidity and mortality. With advances in technology, the number of disorders included in NBS programs increased. Pompe disease is a good c...
متن کاملIntroduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement.
Both authors are members of the Pompe Disease Newborn Screening Working Group and have experience in newborn screening and in treating and caring for patients with Pompe disease; and both authors provided input and reviewed and approved the content for all articles of the supplement. DOI: https:// doi. org/ 10. 1542/ peds. 20160280B Accepted for publication Mar 8, 2017 Address correspondence to...
متن کاملNewborn screening for pompe disease? a qualitative study exploring professional views
BACKGROUND Developments in enzyme replacement therapy have kindled discussions on adding Pompe disease, characterized by progressive muscle weakness and wasting, to neonatal screening. Pompe disease does not fit traditional screening criteria as it is a broad-spectrum phenotype disorder that may occur in lethal form in early infancy or manifest in less severe forms from infancy to late adulthoo...
متن کاملMass Spectrometry but not Fluorimetry Distinguishes Affected and Pseudodeficienies in Newborn Screening for Pompe Disease
The Chinese Foundation of Health, Neonatal Screening Center, Taipei, Taiwan Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan Institute of Environmental and Occupational Health Sciences, National Yang-Ming University Depts. of Chemistry and Biochemistry, University of Washington, Seattle, WA 9...
متن کاملImmunological Factors in Pompe Disease Management: Clinical Experience and Implications for Newborn Screening.
Enzyme replacement therapy (ERT) with alglucosidase alfa has improved clinical outcomes and prolonged survival for patients with infantile Pompe disease (IPD). However, patients characterised as Cross-Reactive Immunological Material (CRIM)negative (CN) mount an immune response against ERT resulting in clinical decline and, ultimately, death. A prophylactic immune tolerance induction (ITI) proto...
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ژورنال
عنوان ژورنال: International Journal of Neonatal Screening
سال: 2020
ISSN: 2409-515X
DOI: 10.3390/ijns6020031