Clinical Diversity in Patients with Anderson-fabry Disease with the R301Q Mutation

Anderson-Fabry disease (AFD) is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme α-galactosidase A (α-GAL A). We herein report 10 cases of AFD in 5 families (3 men and 7 women) that were found to have a specific common mutation in R301Q [G-to-A transition in exon 6 (codo...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Internal Medicine 2019/02/15, Vol.58(4), pp.603-607
Hauptverfasser:	Yamamoto, Saori, Nagasawa, Tasuku, Sugimura, Koichiro, Kanno, Atsuhiro, Tatebe, Shunsuke, Aoki, Tatsuo, Sato, Haruka, Kozu, Katsuya, Konno, Ryo, Nochioka, Kotaro, Satoh, Kimio, Shimokawa, Hiroaki
Format:	Artikel
Sprache:	eng
Schlagworte:	Anderson-Fabry disease Arginine Case Report Enzymatic activity Fabry's disease Galactosidase Glutamine hypertrophic cardiomyopathy Internal medicine Mutation renal failure ɑ-galactosidase mutant (R301Q)
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!