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...

Descripción completa

Detalles Bibliográficos
Autores principales: Tang, Hao, Matteson, Jamie, Rinaldo, Piero, Tortorelli, Silvia, Currier, Robert, Sciortino, Stanley
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7570356/
https://www.ncbi.nlm.nih.gov/pubmed/33123639
http://dx.doi.org/10.3390/ijns6030062

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7570356/
https://www.ncbi.nlm.nih.gov/pubmed/33123639
http://dx.doi.org/10.3390/ijns6030062

Ejemplares similares