Last Posted: Feb 09, 2021
- A policy analysis of the national phenylketonuria screening program in Iran.
Heidari Alireza et al. BMC health services research 2021 Feb 21(1) 120
- Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.
Zhang Ruixue et al. Scientific reports 2021 Jan 11(1) 2699
- [The neonatal screening programs in Spain.Science, research and public health, keys to their quality and effectiveness.]
Dulín Iñiguez Elena et al. Revista espanola de salud publica 2021 Jan 95
- Neonatal screening program for five conditions in Honduras.
Buckley Michelle Melissa Miralda et al. Journal of community genetics 2021 Jan
- Ethical Issues Surrounding Newborn Screening.
Howell R Rodney et al. International journal of neonatal screening 2021 Jan 7(1)
- [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
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.