Phenylketonuria
What's New
Last Posted: Mar 03, 2023
- Precision information extraction for rare disease epidemiology at scale.
William Z Kariampuzha et al. Journal of translational medicine 2023 21(1) 157 - The BMI Z-Score and Protein Energy Ratio in Early- and Late-Diagnosed PKU Patients from a Single Reference Center in Mexico.
Lizbeth Alejandra López-Mejía et al. Nutrients 2023 15(4) - A Retrospective Analysis of Clinically Focused Exome Sequencing Results of 372 Infants with Suspected Monogenic Disorders in China.
An Jia et al. Pharmacogenomics and personalized medicine 2023 1681-97 - Evaluation of patients diagnosed with phenylketonuria and biotinidase deficiency by the newborn screening program: a ten-year retrospective study.
Toktas Izzettin et al. The Turkish journal of pediatrics 2022 64(6) 985-992 - Cost-effectiveness of newborn screening for phenylketonuria and congenital hypothyroidism.
Appelberg Kajsa et al. The Journal of pediatrics 2022 - The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period.
Tiivoja Elis et al. JIMD reports 2022 63(6) 604-613 - A retrospective analysis of metabolic control in children with PKU in the COVID-19 era.
Becsei Dóra et al. Molecular genetics and metabolism reports 2022 32100897 - Assessment of parents´ knowledge regarding phenylketonuria and its affecting factors: a cross-sectional study.
Öztürk Fatma Ünesi et al. The Pan African medical journal 2022 41308 - Starting the conversation on gene therapy for phenylketonuria: Current perspectives of patients, caregivers, and advocates.
Regier Debra S et al. Molecular genetics and metabolism reports 2022 31100855 - Migration and newborn screening: time to build on the European Asylum, Integration and Migration Fund?
Tsagkaris Christos et al. The European journal of contraception & reproductive health care : the official journal of the European Society of Contraception 2022 1-5
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About Rare Diseases PHGKB
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
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:Feb 1, 2023
- Page last updated:Jun 02, 2023
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