Pérez-López J, Morales-Conejo M, López-Rodríguez M, Hermida-Ameijeiras Á, Moltó-Abad M. BACKGROUND: The efficacy of starting enzyme replacement therapy (ERT) in adults with Muchopolysaccharidosis Type I (MPS-I) is controversial. Evaluating the benefits reported by patients initiating ERT with laronidase at adult age might help physicians decide whether the use of ERT in these patients is worthwhile […]
Herrera S, Pérez-López J, Moltó-Abad M, Güerri-Fernández R, Cabezudo E, Novelli S, Esteve J, Hernández A, Roig I, Solanich X, Prieto-Alhambra D, Nogués X, Díez-Pérez A. BACKGROUND: Gaucher disease (GD), one of the commonest lysosomal disorders (a global population incidence of 1:50,000), is characterized by beta-glucocerebrosidase deficiency. Some studies have demonstrated bone infiltration in up […]
Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments.
The transition process from paediatric to adult care is a subject of great interest in recent years, especially in chronic diseases with childhood onset, such as inborn errors of metabolism (IEM). Advances in diagnosis and treatment of these diseases have improved their prognosis, with a high number of patients with IEM who currently reach adult age and need to be attended to by non-paediatric professionals. The objective of this work is to establish action guidelines so that the specialists involved can guarantee a successful transition of these patients’ healthcare.
El presente documento, “Plan Estratégico para el desarrollo de Centros de Excelencia en Errores Congénitos del Metabolismo (ECM) en pacientes adultos”, surge como iniciativa de un amplio grupo de especialistas en Medicina Interna, dedicados a la atención de estas entidades, la mayoría de ellos provenientes de hospitales que recibieron la acreditación de Centro, Servicio o Unidad de Referencia (CSUR) por […]