Month: <span>June 2025</span>
Month: June 2025

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder

Invest Ophthalmol Vis Sci. 2025 Jun 2;66(6):17. doi: 10.1167/iovs.66.6.17. ABSTRACT PURPOSE: Primary mitochondrial disorders (PMDs) are a clinically heterogeneous group of genetic disorders that can …

Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy

Invest Ophthalmol Vis Sci. 2025 Jun 2;66(6):19. doi: 10.1167/iovs.66.6.19. ABSTRACT PURPOSE: Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are inherited retinal diseases …

Delphi consensus finding on paediatric-adult transition: results from the epilepsy transition working group of the italian league against epilepsy (LICE)

Neurol Sci. 2025 Jun 4. doi: 10.1007/s10072-025-08166-y. Online ahead of print. ABSTRACT PURPOSE AND RATIONALE: The care for paediatric and transitional-age epilepsy patients has expanded …

Evaluating an integrated clinical pharmacist model in a geriatric day hospital: a prospective single-centre observational study

Int J Clin Pharm. 2025 Jun 4. doi: 10.1007/s11096-025-01934-y. Online ahead of print. ABSTRACT BACKGROUND: Drug-related problems (DRPs) are prevalent in geriatric patients and associated …