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

• Main Authors: Hao Tang (Author), Jamie Matteson (Author), Piero Rinaldo (Author), Silvia Tortorelli (Author), Robert Currier (Author), Stanley Sciortino (Author)
• Format: Book
• Published: MDPI AG, 2020-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 like...