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Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future.
Moser, Ann B; Seeger, Elisa; Raymond, Gerald V.
Afiliação
  • Moser AB; Kennedy Krieger Institute, Baltimore, MD 21205, USA.
  • Seeger E; ALD Alliance, Brooklyn, NY 11218, USA.
  • Raymond GV; Department of Genetic Medicine, Johns Hopkins Hospital, Baltimore, MD 21287, USA.
Int J Neonatal Screen ; 8(1)2022 Feb 18.
Article em En | MEDLINE | ID: mdl-35225938
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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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article