Last Posted: Sep 21, 2021
- Protein status of people with phenylketonuria: a scoping review protocol.
Firman Sarah et al. BMJ open 2021 11(9) e049883
- Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics.
Adams Darius et al. Molecular genetics and metabolism reports 2021 28100790
- Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey.
Poloni Soraia et al. Nutrients 2021 13(8)
- Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population.
Tan Jianqiang et al. Frontiers in genetics 2021 12631688
- Clinical and Paraclinical Characteristics of Non-Classic Phenylketonuria.
Shakiba Marjan et al. Iranian journal of child neurology 2021 15(3) 131-138
- Genetic landscape of recessive diseases in the Vietnamese population from large-scale clinical exome sequencing.
Tran Ngoc Hieu et al. Human mutation 2021
- Ethical implications of next-generation sequencing and the future of newborn screening.
White-Corey Shelley et al. Journal of the American Association of Nurse Practitioners 2021 33(7) 492-495
- Next-Generation Sequencing in Newborn Screening: A Review of Current State.
Remec Ziga I et al. Frontiers in genetics 2021 12662254
- Newborn Screening and Treatment of Phenylketonuria: Projected Health Outcomes and Cost-Effectiveness.
Chen Huey-Fen et al. Children (Basel, Switzerland) 2021 8(5)
van Spronsen Francjan J et al. Nature reviews. Disease primers 2021 7(1) 36
- 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
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
- CDC Information (2)
- NIH Information (2)
- COVID-19 (1)
- CDC Publications (2)
- Human Genome Epidemiologic Studies (91)
- Genomic Tests Evidence Synthesis (10)
- Genomic Tests Guidelines (10)
- Tier-Classified Guidelines (1)
- Pathogen Advanced Molecular Detection (1)
- State Public Health Genomics Programs (14)
- Reviews/Commentaries (34)
- Ethical/Legal and Social Issues (ELSI) (5)
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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.