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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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Detalhes bibliográficos
Main Authors: Jack, Gyda Hlin Skuladottir, Malm-Willadsen, Karolina, Frederiksen, Anja, Glintborg, Dorte, Andersen, Marianne
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3705873/
https://ncbi.nlm.nih.gov/pubmed/23864971
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2013/491790
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