Browsing by Publisher "Maghira and Maas Publications"

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    • A distinct clinical phenotype in two siblings with X-linked adrenoleukodystrophy 

      Kutbay, N.O. and Ozbek, M.N. and Yurekli, B.S. and Demirbilek, H. (Maghira and Maas Publications, 2019)
      OBJECTIVES: X-linked adrenoleukodystrophy(X-ALD) is a rare X-linked recessive metabolic disorder. The mutations in the ATP Binding Cassette Subfamily D Member 1 (ABCD1) gene account for the underlying molecular mechanism. ...