What's New

Last Posted: Mar 12, 2020

• Strategies to engage lost to follow-up patients with phenylketonuria in the United States: Best practice recommendations.
  Beazer Jennifer et al. Molecular genetics and metabolism reports 2020 Jun 23100571
• [Clinical practice guidelines for phenylketonuria].
  Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Mar 37(3) 226-234
• Characteristics, comorbidities, and use of healthcare resources of patients with phenylketonuria: a population-based study.
  Darbà Josep et al. Journal of medical economics 2019 Oct 22(10) 1025-1029
• Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
  Giugliano Teresa et al. Genes 2019 10(8)
• Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review.
  Pugliese Michael et al. Orphanet journal of rare diseases 2020 Jan 15(1) 12
• 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