Advancing Diagnosis and Therapy of Rare Monogenic Disorders through AI: Insights from Adrenoleukodystrophy
Background: Adrenoleukodystrophy (ALD) is a rare X-linked monogenic disorder caused by mutations in the ABCD1 gene, resulting in severe neurologica and adrenal dysfunction. Its phenotypic variability and diagnostic complexity hinder timely intervention. Objective: This review examines the role of ar...
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| Główni autorzy: | , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
EDP Sciences
2026-01-01
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| Seria: | BIO Web of Conferences |
| Hasła przedmiotowe: | |
| Dostęp online: | https://www.bio-conferences.org/articles/bioconf/pdf/2026/26/bioconf_icabb2026_01022.pdf |
| Etykiety: |
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