What's New

Last Posted: Dec 21, 2020

• [50 years of the Neonatal Screening Program in Catalonia.]
  Marín Soria Jose Luis et al. Revista espanola de salud publica 2020 Dec 94
• [Evaluation and perspective of 20 years of neonatal screening in Galicia. Program results.]
  Sánchez Pintos Paula et al. Revista espanola de salud publica 2020 Dec 94
• [The role of Public Health as a key to the success of the neonatal screening program in the Basque Country.]
  Espada Sáenz-Torre Mercedes et al. Revista espanola de salud publica 2020 Dec 94
• Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.
  Tangeraas Trine et al. International journal of neonatal screening 2020 Jun 6(3)
• The management of phenylketonuria in adult patients in Italy: a survey of six specialist metabolic centers.
  Burlina Alberto et al. Current medical research and opinion 2020 Nov 1
• Expanded Newborn Screening Program in Slovenia using Tandem Mass Spectrometry and Confirmatory Next Generation Sequencing Genetic Testing.
  Lampret Barbka Repic et al. Zdravstveno varstvo 2020 Dec 59(4) 256-263
• Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.
  Van Calcar S C et al. Molecular genetics and metabolism 2020 Oct
• Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily.
  Messina MariaAnna et al. International journal of neonatal screening 2018 Jun 4(2) 12
• Neonatal and carrier screening for rare diseases: how innovation challenges screening criteria worldwide.
  Cornel Martina C et al. Journal of community genetics 2020 Oct
• Post-Analytical Tools for the Triage of Newborn Screening Results in Follow-up Can Reduce Confirmatory Testing and Guide Performance Improvement.
  Hall Patricia L et al. International journal of neonatal screening 2020 Mar 6(1) 20
• Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening.
  Mütze Ulrike et al. Pediatrics 2020 Oct
• Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.
  Carducci Carla et al. JIMD reports 2020 Sep 55(1) 59-67
• Improving the Diagnosis of Phenylketonuria by Using a Machine Learning-Based Screening Model of Neonatal MRM Data.
  Zhu Zhixing et al. Frontiers in molecular biosciences 2020 7115
• Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.
  Rajabi Farrah et al. Molecular genetics and metabolism 2019 128(4) 415-421
• Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.
  Mohamed Sarar et al. Saudi medical journal 2020 Jul 41(7) 703-708