Use of sapropterin in Mexican patients with yperphenylalaninemia

• Κύριοι συγγραφείς: Susana Monroy-Santoyo (Συγγραφέας), Leticia Belmont-Martínez (Συγγραφέας), Cynthia Fernández-Lainez (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: Instituto Nacional de Pediatría, 2014-07-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: Connect to this object online.

Hyperphenylalaninemia is caused by deficient enzyme activity of phenylalanine hydroxylase. It was one of the first genetic disorders susceptible to treatment with a natural protein restricted diet for life. While this treatment has proven effective in preventing mental retardation, eliminating certa...