Fabry disease: clinical and genotypic aspects of three cases in first degree relatives

• Egile Nagusiak: Leticia Bueno Nunes da Silva (Egilea), Thais Cardoso de Mello Tucunduva Badiz (Egilea), Milvia Maria Simoes e Silva Enokihara (Egilea), Adriana Maria Porro (Egilea)
• Formatua: Liburua
• Argitaratua: Sociedade Brasileira de Dermatologia, 2014-01-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

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...