Implementation of a Methodology for the Detection of Biochemical Markers in Type 1 Tyrosinemia

• Autors principals: Iovana Fuentes Cortés (Autor), Beliany Pacheco Suárez (Autor), Dulce María Charón Savón (Autor)
• Format: Llibre
• Publicat: Universidad de las Ciencias Médicas de Cienfuegos, 2023-11-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

<strong>Foundation:</strong> hereditary tyrosinemia type I or hepato-renal tyrosinemia is an autosomal recessive disease caused by deficiency of the enzyme fumarylacetoacetate hydrolase. Due to its metabolic complexity, its confirmation requires a set of highly expensive methods. <str...