Phenylketonuria
What's New
Last Posted: Mar 31, 2022
- Optimizing the Phenylalanine Cut-Off Value in a Newborn Screening Program.
Perko Dasa et al. Genes 2022 13(3) - Lifetime Cost Effectiveness of Phenylketonuria Screening National Program in Iran.
Heidari Alireza et al. Iranian journal of public health 2022 50(10) 2105-2110 - Quality of life in children living with PKU - a single-center, cross-sectional, observational study from Hungary.
Becsei Dóra et al. Molecular genetics and metabolism reports 2021 29100823 - Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt.
Magdy Rofaida M et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 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
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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
Content Summary
- CDC Information (2)
- NIH Information (2)
- COVID-19 (2)
- 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
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- 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.
- Page last reviewed:Jul 25, 2022
- Page last updated:Sep 24, 2022
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