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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Detaylı Bibliyografya
Asıl Yazarlar: Jack, Gyda Hlin Skuladottir, Malm-Willadsen, Karolina, Frederiksen, Anja, Glintborg, Dorte, Andersen, Marianne
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Hindawi Publishing Corporation 2013
Konular:
Case Report
Online Erişim: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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