Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future
Newborn screening for X-linked adrenoleukodystrophy began in New York in 2013. Prior to this start, there was already significant information on the diagnosis and monitoring of asymptomatic individuals. Methods needed to be developed and validated for the use of dried blood spots. Following its inst...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-02-01
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| Series: | International Journal of Neonatal Screening |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2409-515X/8/1/16 |
| _version_ | 1827648521201778688 |
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| author | Ann B. Moser Elisa Seeger Gerald V. Raymond |
| author_facet | Ann B. Moser Elisa Seeger Gerald V. Raymond |
| author_sort | Ann B. Moser |
| collection | DOAJ |
| description | Newborn screening for X-linked adrenoleukodystrophy began in New York in 2013. Prior to this start, there was already significant information on the diagnosis and monitoring of asymptomatic individuals. Methods needed to be developed and validated for the use of dried blood spots. Following its institution in New York, its acceptance as a disorder on the Recommended Uniform Screening occurred. With it has come published recommendations on the surveillance and care of boys detected by newborn screening. There still remain challenges, but it is hoped that with periodic review, they may be overcome. |
| first_indexed | 2024-03-09T19:40:23Z |
| format | Article |
| id | doaj.art-456af9052a1343a9ad67160a78582374 |
| institution | Directory Open Access Journal |
| issn | 2409-515X |
| language | English |
| last_indexed | 2024-03-09T19:40:23Z |
| publishDate | 2022-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj.art-456af9052a1343a9ad67160a785823742023-11-24T01:39:41ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2022-02-01811610.3390/ijns8010016Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and FutureAnn B. Moser0Elisa Seeger1Gerald V. Raymond2Kennedy Krieger Institute, Baltimore, MD 21205, USAALD Alliance, Brooklyn, NY 11218, USADepartment of Genetic Medicine, Johns Hopkins Hospital, Baltimore, MD 21287, USANewborn screening for X-linked adrenoleukodystrophy began in New York in 2013. Prior to this start, there was already significant information on the diagnosis and monitoring of asymptomatic individuals. Methods needed to be developed and validated for the use of dried blood spots. Following its institution in New York, its acceptance as a disorder on the Recommended Uniform Screening occurred. With it has come published recommendations on the surveillance and care of boys detected by newborn screening. There still remain challenges, but it is hoped that with periodic review, they may be overcome.https://www.mdpi.com/2409-515X/8/1/16adrenoleukodystrophynewborn screeningdried blood spotsadrenal insufficiencycerebral adrenoleukodystrophy |
| spellingShingle | Ann B. Moser Elisa Seeger Gerald V. Raymond Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future International Journal of Neonatal Screening adrenoleukodystrophy newborn screening dried blood spots adrenal insufficiency cerebral adrenoleukodystrophy |
| title | Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future |
| title_full | Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future |
| title_fullStr | Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future |
| title_full_unstemmed | Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future |
| title_short | Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future |
| title_sort | newborn screening for x linked adrenoleukodystrophy past present and future |
| topic | adrenoleukodystrophy newborn screening dried blood spots adrenal insufficiency cerebral adrenoleukodystrophy |
| url | https://www.mdpi.com/2409-515X/8/1/16 |
| work_keys_str_mv | AT annbmoser newbornscreeningforxlinkedadrenoleukodystrophypastpresentandfuture AT elisaseeger newbornscreeningforxlinkedadrenoleukodystrophypastpresentandfuture AT geraldvraymond newbornscreeningforxlinkedadrenoleukodystrophypastpresentandfuture |