Last Posted: Aug 01, 2019
- Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data.
Trefz K F et al. Orphanet journal of rare diseases 2019 Jul 14(1) 181
- Noninvasive fetal genotyping in pregnancies at risk for PKU using a comprehensive quantitative cSMART assay for PAH gene mutations: a clinical feasibility study.
Lv Weigang et al. BJOG : an international journal of obstetrics and gynaecology 2019 Jul
- International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria.
Muntau Ania C et al. Molecular genetics and metabolism 2019 127(1) 1-11
- Navigating Newborn Screening in the NICU: A User's Guide.
Kronn David et al. NeoReviews 2019 May 20(5) e280-e291
- Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
David Jan et al. Central European journal of public health 2019 Jun 27(2) 153-159
- Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals.
Yamaguchi-Kabata Yumi et al. Human genetics 2019 Apr 138(4) 389-409
- Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians' current practices.
Yuskiv Nataliya et al. Orphanet journal of rare diseases 2019 14(1) 7
- Genotype-phenotype correlations and BH 4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil.
Vieira Neto Eduardo et al. Molecular genetics & genomic medicine 2019 Mar e610
- Medical care of patients with disorders of aromatic amino acid metabolism: a report based on the Polish National Health Fund data records.
Szypowska Agnieszka et al. Pediatric endocrinology, diabetes, and metabolism 2018 2018(3) 118-125
- Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants.
Yan Yousheng et al. Metabolic brain disease 2019 Feb
- Weaning practices in phenylketonuria vary between health professionals in Europe.
Pinto A et al. Molecular genetics and metabolism reports 2019 Mar 1839-44
- Health utilities and parental quality of life effects for three rare conditions tested in newborns.
Simon Norma-Jean et al. Journal of patient-reported outcomes 2019 Jan 3(1) 4
- The Role of Technology in Newborn Screening.
Millington David S et al. North Carolina medical journal 80(1) 49-53
- A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
Wang Wenjie et al. BMC medical genetics 2019 Jan 20(1) 3
- Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria.
Longo Nicola, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 12 0.
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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.
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- Page last updated:Aug 24, 2019
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