What's New

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.