Clinical Manifest X-Linked Recessive Adrenoleukodystrophy in a Female

Adrenoleukodystrophy (ALD) is a rare X-linked inherited leukodystrophy with a reduced capacity for degradation of very long chain fatty acids (VLCFAs). The intracellular accumulation of VLCFA leads to demyelination in the central nervous system (CNS) and cell destruction in the adrenal glands. ALD p...

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Detalles Bibliográficos
Autores principales: Jack, Gyda Hlin Skuladottir, Malm-Willadsen, Karolina, Frederiksen, Anja, Glintborg, Dorte, Andersen, Marianne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3705873/
https://www.ncbi.nlm.nih.gov/pubmed/23864971
http://dx.doi.org/10.1155/2013/491790

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