Abstract Inborn errors of metabolism are rare disorders with few therapeutic options for their treatments, which can make patients suffer with complications. Therefore, compounded drugs might be a promising option given that they have the ability of meeting the patient's specific needs, (i) identificatio...
Abstract Objectives: This study aimed to review the literature on the repercussions of the different inborn errors of immunity on growth, drawing attention to the diagnosis of this group of diseases in patients with growth disorders, as well as to enable the identification of the different causes of gro...
Resumen: Introducción: La hiperamonemia neonatal secundaria a errores congénitos del metabolismo es una entidad poco frecuente pero con una alta tasa de secuelas neurológicas y mortalidad. El manejo médico inicial es en muchas ocasiones insuficiente para detener el progresivo aumento de la amonemia...
