相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。X-chromosome inactivation in female patients with Fabry disease
L. Echevarria et al.
CLINICAL GENETICS (2016)
Later Onset Fabry Disease, Cardiac Damage Progress in Silence Experience With a Highly Prevalent Mutation
Ting-Rong Hsu et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2016)
Fabry Disease: A Disorder of Childhood Onset
Raphael Schiffmann et al.
PEDIATRIC NEUROLOGY (2016)
Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease
Xiaoxia Pan et al.
PLOS ONE (2016)
Intrafamilial phenotypic variability in four families with Anderson-Fabry disease
M. Rigoldi et al.
CLINICAL GENETICS (2014)
Agalsidase therapy in patients with Fabry disease on renal replacement therapy: a nationwide study in Italy
Renzo Mignani et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2008)
High incidence of later-onset Fabry disease revealed by newborn screening
Marco Spada et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Remarkable variability in renal disease in a large Slovenian family with Fabry disease
F Verovnik et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2004)