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 (<i>ABCD1</i>) gene variant of uncertain significance (VUS). To determine retrospectively the likelihood that...

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Bibliografische Detailangaben

Hauptverfasser:	Hao Tang, Jamie Matteson, Piero Rinaldo, Silvia Tortorelli, Robert Currier, Stanley Sciortino
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	MDPI AG 2020-08-01
Schriftenreihe:	International Journal of Neonatal Screening
Schlagworte:	newborn screening X-linked adrenoleukodystrophy very long-chain fatty-acids ATP binding cassette subfamily D member 1 variants of uncertain significance confirmatory test
Online-Zugang:	https://www.mdpi.com/2409-515X/6/3/62
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