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Adrenomyeloneuropathy with bulbar palsy: A rare association
Adrenomyeloneuropathy (AMN) is a variant of adrenoleukodystrophy (ALD), an X-linked recessive peroxisomal disorder associated with accumulation of very long chain fatty acids (VLCFA). Mutations of this gene lead to abnormal peroxisomal β-oxidation, which results in the harmful accumulation of VLCFAs...
Autores principales: | Chafale, Vishal Annaji, Lahoti, Satish Arunkumar, Biswas, Atanu, Roy, Arijit, Senapati, Asit Kumar |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4162032/ https://www.ncbi.nlm.nih.gov/pubmed/25221415 http://dx.doi.org/10.4103/0972-2327.138530 |
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