Impact of Early Intervention on the Developmental and Ocular Outcome of Patients With Cobalamin C Deficiency Identified Through Newborn Screening

Documenti analoghi

• Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta‐Analysis
  di: Anna T. Reischl‐Hajiabadi, et al.
  Pubblicazione: (2025)
• Correction to “Comparative Analysis of Gene and Disease Selection in Genomic Newborn Screening Studies”
  Pubblicazione: (2025)
• Evaluation of Newborn Screening for Diseases Using C5 ‐ OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5 ‐ OH Screening in the Netherlands
  di: Ryan Aukes, et al.
  Pubblicazione: (2025)
• Real‐Life Application of a Point‐of‐Care Biosensor for Phenylalanine in Patients With Phenylketonuria
  di: Corentin Gondrand, et al.
  Pubblicazione: (2026)
• Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase‐ IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II
  di: Joseph Muenzer, et al.
  Pubblicazione: (2024)