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

dc.contributor.authors	Gundogdu, AA; Ayas, ZO; Alemdar, M; Kotan, D;
dc.date.accessioned	2020-02-27T08:26:21Z
dc.date.available	2020-02-27T08:26:21Z
dc.date.issued	2017
dc.identifier.citation	Gundogdu, AA; Ayas, ZO; Alemdar, M; Kotan, D; (2017). The spectrum of neurological manifestations of Fabry disease in alarge Turkish family with c.[680G > A] p.[R227Q]mutation. NEUROLOGY ASIA, 22, 259-253
dc.identifier.issn	1823-6138
dc.identifier.uri	https://hdl.handle.net/20.500.12619/65795
dc.description.abstract	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 to perform enzymatic and genetic studies among family members.
dc.language	English
dc.publisher	ASEAN NEUROLOGICAL ASSOC
dc.subject	Neurosciences & Neurology
dc.title	The spectrum of neurological manifestations of Fabry disease in alarge Turkish family with c.[680G > A] p.[R227Q]mutation
dc.type	Article
dc.identifier.volume	22
dc.identifier.startpage	253
dc.identifier.endpage	259
dc.contributor.department	Sakarya Üniversitesi/Tıp Fakültesi/Dahili Tıp Bilimleri Bölümü
dc.contributor.saüauthor	Kotan Dündar, Dilcan
dc.relation.journal	NEUROLOGY ASIA
dc.identifier.wos	WOS:000412414900009
dc.contributor.author	Asli Aksoy Gundogdu
dc.contributor.author	Zeynep Ozozen Ayas
dc.contributor.author	Murat Alemdar
dc.contributor.author	Kotan Dündar, Dilcan