The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina
Author:
Affiliation:
1. IIFP, Departamento de Ciencias Biológicas, Facultad de Ciencias Exactas, Universidad Nacional de La Plata y CONICET, La Plata, Argentina
2. Sanatorio Urquiza, Quilmes, Argentina
Publisher
FapUNIFESP (SciELO)
Subject
Genetics (clinical),Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health
Link
http://journals.sagepub.com/doi/pdf/10.1177/2326409815613806
Reference34 articles.
1. Fabry's Disease: Alpha-Galactosidase Deficiency
2. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males
3. Fabry Disease: Thirty-Five Mutations in the α-Galactosidase A Gene in Patients with Classic and Variant Phenotypes
4. Prevalence of Lysosomal Storage Disorders
5. The frequency of lysosomal storage diseases in The Netherlands
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