Browsing Makale Koleksiyonu by Author "Gundogdu, AA; Ayas, ZO; Alemdar, M; Kotan, D;"

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The spectrum of neurological manifestations of Fabry disease in alarge Turkish family with c.[680G > A] p.[R227Q]mutation

Asli Aksoy Gundogdu; Zeynep Ozozen Ayas; Murat Alemdar; Kotan Dündar, Dilcan (ASEAN NEUROLOGICAL ASSOC, 2017)

Conclusion: The clinical and genetic features of this large Turkish family with FD support an association between the neurological phenotype and the c.[680G> A] p.[R227Q] mutation. Since FD is treatable, it is recommended ...