Last Posted: Oct 19, 2023
- Exploring factors impacting haplotype-based noninvasive prenatal diagnosis for single-gene recessive disorders.
Lingrong Kong et al. Clin Genet 2023
- Health status and comorbidities of adult patients with late-diagnosed phenylketonuria (PKU) born before the newborn screening in France - A nationwide study of health insurance claims data.
Claire Douillard et al. Mol Genet Metab 2023 140(3) 107704
- Relationship satisfaction in adults with phenylketonuria is positively associated with following recommended treatment, having a partner involved in management, and maintaining good health.
Rachel Sundstrom et al. J Community Genet 2023 10
- Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria.
Júlio César Rocha et al. Nutrients 2023 15(18)
- Health-related quality of life in a european sample of adults with early-treated classical PKU.
Stephanie Maissen-Abgottspon et al. Orphanet J Rare Dis 2023 18(1) 300
- Newborn Screening for Neurodevelopmental Disorders May Exacerbate Health Disparities.
Sarah A Sobotka et al. Pediatrics 2023
- Evaluation of newborn screening in the state of Mato Grosso from 2005 to 2019.
Roseli Divino Costa et al. Rev Paul Pediatr 2023 42e2022161
- Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG)
AD Adams et al, Genetics in Medicine, July 20, 2023
- Genomic newborn screening: are we entering a new era of screening?
Ute Spiekerkoetter et al. J Inherit Metab Dis 2023
- Nutrition management of PKU with pegvaliase therapy: update of the web-based PKU nutrition management guideline recommendations.
Amy Cunningham et al. Orphanet J Rare Dis 2023 18(1) 155
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
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.
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 01, 2023
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