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Broadening the Spectrum of Adulthood X-Linked Adrenoleukodystrophy: A Report of Two Atypical Cases

X-linked adrenoleukodystrophy (x-ALD) is a rare genetic disorder caused by a mutation in the ABCD1 gene, which encodes for a peroxisomal very long chain fatty acid transporter. Clinically, x-ALD can present a wide spectrum of different phenotypes: asymptomatic carriers, Addison only, cerebral x-ALD,...

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Detalles Bibliográficos
Autores principales: Foschi, Matteo, Vacchiano, Veria, Avoni, Patrizia, Incensi, Alex, Battaglia, Stella, Donadio, Vincenzo, Panzeri, Elena, Bassi, Maria Teresa, Liguori, Rocco, Rizzo, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372518/
https://www.ncbi.nlm.nih.gov/pubmed/30787906
http://dx.doi.org/10.3389/fneur.2019.00070