Fabry disease: An overlooked diagnosis in adult cardiac patients

• Principais autores: Meral Kayıkçıoğlu (Autor), Evrim Şimşek (Autor), Sema Kalkan Uçar (Autor), Selen Bayraktaroğlu (Autor), Hüseyin Onay (Autor), Eser Sözmen (Autor), Mahmut Çoker (Autor)
• Formato: Livro
• Publicado em: KARE Publishing, 2017-09-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Fabry disease is a rare, X-linked, lysosomal glycosphingolipid storage disorder. A deficiency of the enzyme alpha-galactosidase results in intracellular accumulation of globotriaosylceramide in multiple cell types, such as those of the nerves, kidneys, cardiac, and cutaneous tissues, leading to a mu...