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The Clinical Impact of CLIR Tools toward Rapid Resolution of Post-Newborn Screening Confirmatory Testing for X-Linked Adrenoleukodystrophy in California

Since the start of X-linked adrenoleukodystrophy (ALD) newborn screening in California, more than half of the diagnosed cases were found to have an ATP binding cassette subfamily D member 1 (ABCD1) gene variant of uncertain significance (VUS). To determine retrospectively the likelihood that these w...

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Detalhes bibliográficos
Publicado no:Int J Neonatal Screen
Main Authors: Tang, Hao, Matteson, Jamie, Rinaldo, Piero, Tortorelli, Silvia, Currier, Robert, Sciortino, Stanley
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7570356/
https://ncbi.nlm.nih.gov/pubmed/33123639
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijns6030062
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