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Last Posted: Feb 01, 2023

• Benefits, Harms and Costs of Newborn Genetic Screening for Hypertrophic Cardiomyopathy: Estimates from the PreEMPT Model
  KD Chrisiensen et al, Genetics in Medicine, January 31, 2023
• Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring.
  Eleonora Bonaventura et al. Frontiers in neurology 2023 131072256
• A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.
  Balachander Kannan et al. Journal of pediatric genetics 2023 12(1) 1-15
• Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study.
  Kariyawasam Didu S et al. The Lancet. Child & adolescent health 2023
• Validation of a targeted metabolomics panel for improved second-tier newborn screening.
  Mak Justin et al. Journal of inherited metabolic disease 2023
• Newborn Screening Long-Term Follow-Up Clinics (Continuity Clinics) in the Philippines during the COVID-19 Pandemic: Continuing Quality Patient Care.
  Maceda Ebner Bon G et al. International journal of neonatal screening 2023 9(1)
• Diagnosing Cystic Fibrosis in Adults.
  Barry Peter J et al. Seminars in respiratory and critical care medicine 2023
• Surveillance for the Rare Condition of Sickle Cell Disease in Wisconsin.
  Singh Ashima et al. WMJ : official publication of the State Medical Society of Wisconsin 2023 121(4) 297-300
• The efficacy of maternal health education and maternal screening on knowledge and the uptake of infant screening for sickle cell disease in Dar-Es-Salaam, Tanzania; a quasi experimental study.
  Tutuba Hilda J et al. BMC public health 2023 23(1) 70
• The Importance of Neonatal Screening for Galactosemia.
  Badiu Ti?a Ioana et al. Nutrients 2023 15(1)

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