Phenylketonuria || Public Health Genomics Knowledge Base (v1.2)

Public Health Genomics Knowledge Base (v1.2)




Last Posted: Feb 09, 2017

---

• Adherence to clinic recommendations among patients with phenylketonuria in the United States.
  Jurecki E R et al. Molecular genetics and metabolism 2017 Jan
• Challenges of Implementation of the National Phenylketonuria Screening Program in Iran: A Qualitative Study.
  Heidari Alireza et al. Electronic physician 2016 Oct 8(10) 3048-3056
• The first Mongolian cases of phenylketonuria in selective screening of inborn errors of metabolism.
  Purevsuren Jamiyan et al. Molecular genetics and metabolism reports 2016 Dec 971-74
• Current recommendations: Screening for Mendelian disorders.
  Rose Nancy C et al. Seminars in perinatology 2016 Feb 40(1) 23-8
• Molecular newborn screening of four genetic diseases in Guizhou Province of South China.
  Huang Shengwen et al. Gene 2016 Jul
• Phenylketonuria and Gut Microbiota: A Controlled Study Based on Next-Generation Sequencing.
  Pinheiro de Oliveira Felipe et al. PloS one 2016 (6) e0157513
• Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.
  Narravula Alekhya et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jun
• A framework for assessing outcomes from newborn screening: on the road to measuring its promise.
  Hinton Cynthia F et al. Molecular genetics and metabolism 2016 May
• Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach.
  Singh Rani H et al. Molecular genetics and metabolism 2016 Apr
• Screening Out Controversy: Human Genetics, Emerging Techniques of Diagnosis, and the Origins of the Social Issues Committee of the American Society of Human Genetics, 1964-1973.
  Mitchell M X et al. Journal of the history of biology 2016 Feb
• Showing Value in Newborn Screening: Challenges in Quantifying the Effectiveness and Cost-Effectiveness of Early Detection of Phenylketonuria and Cystic Fibrosis.
  Grosse Scott D et al. Healthcare (Basel) 3(4) 1133-1157
• Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
  Al-Jasmi Fatma A et al. JIMD reports 2015 Nov
• How Well Do Customers of Direct-to-Consumer Personal Genomic Testing Services Comprehend Genetic Test Results? Findings from the Impact of Personal Genomics Study.
  Ostergren Jenny E et al. Public Health Genomics 2015 Jun 16.
• An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.
  Thiboonboon Kittiphong et al. PLoS ONE 10(8) e0134782
• Attitudes of parents of children with serious health conditions regarding residual bloodspot use.
  Nagaraj Chinmayee B et al. Public Health Genomics 2014 (3) 141-8
• Ethical and Policy Issues in Newborn Screening of Children for Neurologic and Developmental Disorders.
  Ross Lainie Friedman et al. Pediatr. Clin. North Am. 2015 Jun 62(3) 787-798

more