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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,...
Autores principales: | Foschi, Matteo, Vacchiano, Veria, Avoni, Patrizia, Incensi, Alex, Battaglia, Stella, Donadio, Vincenzo, Panzeri, Elena, Bassi, Maria Teresa, Liguori, Rocco, Rizzo, Giovanni |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2019
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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 |
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