medicine
medicine

Newborn Screening Program for Spinal Muscular Atrophy in the Campania Region (Italy): Current Limitations and Potential Perspectives

Int J Neonatal Screen. 2025 Aug 17;11(3):64. doi: 10.3390/ijns11030064. ABSTRACT Three targeted therapies are currently available for spinal muscular atrophy (SMA), which have dramatically changed …

Development of the EPO-Score – a multivariable tool to predict adverse outcome in infants with perinatal asphyxia undergoing therapeutic hypothermia – a retrospective study

Front Pediatr. 2025 Aug 6;13:1627300. doi: 10.3389/fped.2025.1627300. eCollection 2025. ABSTRACT AIM: Early outcome prediction in neonates with perinatal asphyxia receiving therapeutic hypothermia (TH) remains difficult. …

De Novo KCNJ11 Mutation in an Infant With Neonatal Diabetes Mellitus Presenting as Diabetic Ketoacidosis: A Case Report and Literature Review

J Investig Med High Impact Case Rep. 2025 Jan-Dec;13:23247096251368092. doi: 10.1177/23247096251368092. Epub 2025 Aug 21. ABSTRACT Neonatal diabetes mellitus (NDM) is a rare metabolic disorder …