Abstract:A novel ABCD1 gene mutation in a patient with X-linked adrenoleukodystrophy with atypically normal plasma levels of very long chain fatty acids Plazmada çok uzun zincirli yağ asidi düzeyleri normal olan bir X'e bağlı adrenolökodistrofi hastasında daha önce tanımlanmamış bir ABCD1 gen mutasyonu Tanyel ZUBARIOGLU, Ertugrul KIYKIM, Mehmet Serif CANSEVER, Cigdem AKTUGLU ZEYBEK ABSTRACT X-linked adrenoleukodystrophy (X-ALD) is a rapidly progressive neurodegenerative disorder characterized by progressive demyelinati… Show more
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