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Phenylketonuria
What's New
Last Posted: Nov 20, 2019
- Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
Wang Ting et al. Frontiers in genetics 2019 101052 - Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents.
Zeltner Nina A et al. Orphanet journal of rare diseases 2019 Nov 14(1) 248 - Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.
Schiergens Katharina A et al. Neuropediatrics 2018 49(6) 363-368 - Health-care providers' perspectives on uncertainty generated by variant forms of newborn screening targets.
Azzopardi Paul J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Oct - Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening.
Bower Alexandra et al. Scientific reports 2019 Oct 9(1) 14098 - Individualized diets help patients with inherited metabolic disorders
S Rosen Mayo Clinic, Individualized Medicine Blog, October 4,2019 - Parenting a Child with Phenylketonuria (PKU): an Interpretative Phenomenological Analysis (IPA) of the Experience of Parents.
Carpenter Katie et al. Journal of genetic counseling 2018 27(5) 1074-1086 - Evaluation of droplet digital PCR for non-invasive prenatal diagnosis of phenylketonuria.
Yan Yousheng et al. Analytical and bioanalytical chemistry 2019 Sep - Phenylketonuria incidence in China between 2013 and 2017 based on data from the Chinese newborn screening information system: a descriptive study.
Xiang Liangcheng et al. BMJ open 2019 Aug 9(8) e031474 - Screening and mutation analysis of hyperphenylalaninemia in newborns from Xiamen, China.
Wang Xudong et al. Clinica chimica acta; international journal of clinical chemistry 2019 Aug - 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 - The Promises And Pitfalls Of Gene Sequencing For Newborns
R Harris, Morning edition, NPR, July 8, 2019
Content Summary
- CDC Information (2)
- NIH Information (2)
- CDC Publications (6)
- Human Genome Epidemiologic Studies (106)
- Genomic Tests Evidence Synthesis (8)
- Genomic Tests Guidelines (6)
- Tier-Classified Guidelines (1)
- Pathogen Advanced Molecular Detection (1)
- State Public Health Genomics Programs (14)
- Reviews/Commentaries (26)
- Ethical/Legal and Social Issues (ELSI) (3)
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
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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.
- Page last reviewed:Jul 30, 2019
- Page last updated:Dec 07, 2019
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