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...

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Detalles Bibliográficos
Autores principales: Moser, Ann B., Seeger, Elisa, Raymond, Gerald V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Commentary
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8884000/
https://www.ncbi.nlm.nih.gov/pubmed/35225938
http://dx.doi.org/10.3390/ijns8010016
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author Moser, Ann B.
Seeger, Elisa
Raymond, Gerald V.
author_facet Moser, Ann B.
Seeger, Elisa
Raymond, Gerald V.
author_sort Moser, Ann B.
collection PubMed
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.
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spelling pubmed-88840002022-03-01 Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future Moser, Ann B. Seeger, Elisa Raymond, Gerald V. Int J Neonatal Screen Commentary 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. MDPI 2022-02-18 /pmc/articles/PMC8884000/ /pubmed/35225938 http://dx.doi.org/10.3390/ijns8010016 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Commentary
Moser, Ann B.
Seeger, Elisa
Raymond, Gerald V.
Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future
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 Commentary
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8884000/
https://www.ncbi.nlm.nih.gov/pubmed/35225938
http://dx.doi.org/10.3390/ijns8010016
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