Use of sapropterin in Mexican patients with yperphenylalaninemia

• मुख्य लेखकों: Susana Monroy-Santoyo (लेखक), Leticia Belmont-Martínez (लेखक), Cynthia Fernández-Lainez (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Instituto Nacional de Pediatría, 2014-07-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...