Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania

Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania

X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It results from pathogenic variants in <i>ABCD1</i>, which encodes the peroxisomal very-long-chain fatty acid transporter, causing a spectrum of neurodegenerative phenotypes. The childhood cerebral form of the...

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Main Authors: Jessica R. C. Priestley (Author), Laura A. Adang (Author), Sarah Drewes Williams (Author), Uta Lichter-Konecki (Author), Caitlin Menello (Author), Nicole M. Engelhardt (Author), James C. DiPerna (Author), Brenda DiBoscio (Author), Rebecca C. Ahrens-Nicklas (Author), Andrew C. Edmondson (Author), Francis Jeshira Reynoso Santos (Author), Can Ficicioglu (Author)
Format: Book
Published: MDPI AG, 2022-03-01T00:00:00Z.
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3rd Floor Main Library

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