Clinical experience with orphan drugs for rare metabolic diseases

• Autors principals: Alicia Caso-González (Autor), Jesica Núñez-Rodríguez (Autor), María-José (Autor), Yared González-Pérez (Autor), Raquel Marín-Gorricho (Autor), Claudia Leralta-González (Autor), Carmen Obaldia-Alaña (Autor)
• Format: Llibre
• Publicat: Elsevier, 2022-01-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

Introduction: Inborn errors of metabolism are a highly heterogeneous group of orphan diseases. Diet therapy and enzyme and coenzyme replacement are the most frequently used treatment. There are few patients and published studies about inborn errors of metabolism. The main objective of this study was...