Associated Papers
Urinary VEGF-A165b mRNA expression in Fabry disease: Pilot study.
Jaurretche S et al.
Nefrologia, 2026
Clinical parameters, LysoGb3, podocyturia, and kidney biopsy in children with Fabry disease: is a correlation possible?
Politei J et al.
Pediatric Nephrology (berlin, Germany), 2018
Major Organic Involvement in Women with Fabry Disease in Argentina.
Perretta F et al.
Thescientificworldjournal, 2018
Effectiveness of enzyme replacement therapy in Fabry disease: Long term experience in Argentina.
Cabrera G et al.
Molecular Genetics and Metabolism Reports, 2017
[Fabry's disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects].
Germain DP
Journal De La Societe De Biologie, 2002
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
Altarescu GM et al.
Clinical Genetics, 2001
Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.
Eng CM et al.
Molecular Medicine (cambridge, Mass.), 1997
A carboxy-terminal truncation of human alpha-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of amino acid residues deleted.
Miyamura N et al.
The Journal of Clinical Investigation, 1996
Novel trinucleotide deletion in Fabry's disease.
Cariolou MA et al.
Human Genetics, 1996
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
Eng CM et al.
American Journal of Human Genetics, 1993
Fabry nephropathy. Role of nephrologist and clinical variables associated with the diagnosis.
Jaurretche S et al.
Nefrologia, 0
Direct Correlation between Age at Diagnosis and Severity of Nephropathy in Fabry Disease Patients.
Jaurretche SPA et al.
Indian Journal of Nephrology, 0
Select a paper to view details