Phenotype and Genotype Characterization and Twin Association in Patients with Anderson-Fabry Cardiomyopathy

Whole-blood alpha-D-galactosidase A activity for the identification of Fabry's patients

(2011) Luca Massaccesi et al.   CLINICAL BIOCHEMISTRY

Fabry disease in Spain: description of Spanish patients and a comparison with other European countries using data from the Fabry Outcome Survey (FOS)

(2011) M.-Á. Barba-Romero et al.   INTERNATIONAL JOURNAL OF CLINICAL PRACTICE

Identification of novel mutations in the α-galactosidase A gene in patients with Fabry disease: Pitfalls of mutation analyses in patients with low α-galactosidase A activity

(2011) Makoto Yoshimitsu et al.   Journal of Cardiology

Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies

(2011) Johannes M. F. G. Aerts et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and  -galactosidase A activity

(2010) J. C. Wu et al.   EUROPEAN HEART JOURNAL

Long-Term Effects of Enzyme Replacement Therapy on Fabry Cardiomyopathy

(2009) Frank Weidemann et al.   CIRCULATION

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onsetGLAmutation c.936+919G>A (IVS4+919G>A)

(2009) Wuh-Liang Hwu et al.   HUMAN MUTATION