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Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study

X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, caused by mutations in the <i>ABCD1</i> gene. Early diagnosis is critical to manage adrenal insufficiency and cerebral forms of the disease. Since 2021, a pilot newborn screening (NBS) program for X-ALD has been launched...

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Hoofdauteurs: Eleonora Bonaventura, Fabio Bruschi, Luisella Alberti, Clara Antonello, Filippo Arrigoni, Marina Balestriero, Barbara Borsani, Laura Cappelletti, Elisa Cattaneo, Matilde Ferrario, Giulia Fiore, Maria Iascone, Giana Izzo, Simona Lucchi, Cecilia Parazzini, Michela Perrone Donnorso, Luigina Spaccini, Ylenia Vaia, Pierangelo Veggiotti, Elvira Verduci, Gianvincenzo Zuccotti, Cristina Cereda, Davide Tonduti, XALD-NBS Study Group
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: MDPI AG 2025-09-01
Reeks:International Journal of Neonatal Screening
Onderwerpen:
X-linked adrenoleukodystrophy
ALD
NBS
newborn screening
Zellweger
ZSD
Online toegang:https://www.mdpi.com/2409-515X/11/4/84
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