The Role of the Nephrologist in the Diagnosis and Follow-up of Patients with Fabry's Disease: The Importance of a Multidisciplinary Approach
Autor: | Lino Cirami, Leonardo Caroti, Enrico Eugenio Minetti, Egrina Dervishi |
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Rok vydání: | 2017 |
Předmět: |
Nephrology
medicine.medical_specialty business.industry Globotriaosylceramide General Medicine Disease medicine.disease Fabry's disease Fabry disease chemistry.chemical_compound chemistry Multidisciplinary approach Internal medicine Medicine lipids (amino acids peptides and proteins) business Intensive care medicine |
Zdroj: | Giornale di Tecniche Nefrologiche e Dialitiche. 29:163-167 |
ISSN: | 1724-5974 0394-9362 |
DOI: | 10.5301/gtnd.2017.17314 |
Popis: | Fabry's disease (FD) is an X-linked lysosomal storage disorder caused by deficient activity of alpha-galactosidase A, resulting in the accumulation of the glycosphingolipid globotriaosylceramide (G... |
Databáze: | OpenAIRE |
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