Últimas Publicaciones en BINACIS

• Vosoritide for achondroplasia with open epiphysis
  La acondroplasia constituye la displasia esquelética más prevalente asociada a talla baja desproporcionada, debida a una mutación de herencia autosómica dominante en el gen receptor 3 del factor de crecimiento de fibroblastos (FGFR3), que codifica un receptor transmembrana implicado en la regulación del crecimiento óseo lineal, entre otras funciones. Su incidencia estimada oscila entre 1 […]
• Selected papers from the First Argentine Conference on Medical Genetics and the founding of the Argentine Society of Genomic Medicine and Clinical Genetics
• Medical genetics: from the diagnosis of “rare” diseases to its impact on common diseases
• From theory to practice: experience with an intravenous immunoglobulin infusion protocol in a tertiary-care pediatric hospital
  Intravenous immunoglobulin (IVIG) is a blood-derived product widely used in conditions such as immunodeficiencies, autoinflammatory diseases, and autoimmune disorders. At Garrahan Hospital, a tertiary-care pediatric referral center, approximately 2,000 IVIG infusions are administered annually, 30% of them performed in the Multidisciplinary Day Hospital (MDH). To optimize its administration, an IVIG infusion protocol was implemented. The […]