Fabry disease: clinical and genotypic aspects of three cases in first degree relatives
Fabry disease is an X-linked, lysosomal storage disease caused by the inherited deficiency of the enzyme α-galactosidase A. The diagnosis is usually late, with renal, cardiovascular and/or cerebral complications that reduce life expectancy. Angiokeratomas are asymptomatic lesions present as the init...
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Main Authors: | , , , |
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Format: | Book |
Published: |
Sociedade Brasileira de Dermatologia,
2014-01-01T00:00:00Z.
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Internet
Connect to this object online.3rd Floor Main Library
Call Number: |
A1234.567 |
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Copy 1 | Available |