Initial Evaluation of Newborn Screening for X-Linked Adrenoleukodystrophy in South Florida
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Presenting Author - Sofia Zoullas, AB; Co-Author - Deborah S. Barbouth; Co-Author - Paulo Borjas Mendoza, MD; Co-Author - Stephanie A. Bivona, MS; Co-Author - Willa Thorson, MD;
Meta Tag
Brain/Nervous System
Databases
Genetic Testing
Metabolic Disorder
Pathogenesis
Phenotype
X-Inactivation/X-Linked Disease
Co-Author Deborah S. Barbouth
Co-Author Paulo Borjas Mendoza, MD
Co-Author Stephanie A. Bivona, MS
Co-Author Willa Thorson, MD
Presenting Author Sofia Zoullas, AB
Keywords
newborn screening
X-Linked Adrenoleukodystrophy
X-ALD
South Florida
population demographics
screen-positive patients
prevalence
adrenal insufficiency
pathogenic variants
longitudinal assessment

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