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Last Posted: Sep 11, 2020

• Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.
  Carducci Carla et al. JIMD reports 2020 Sep 55(1) 59-67
• Improving the Diagnosis of Phenylketonuria by Using a Machine Learning-Based Screening Model of Neonatal MRM Data.
  Zhu Zhixing et al. Frontiers in molecular biosciences 2020 7115
• Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.
  Rajabi Farrah et al. Molecular genetics and metabolism 2019 128(4) 415-421
• Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.
  Mohamed Sarar et al. Saudi medical journal 2020 Jul 41(7) 703-708
• Laboratory Diagnosis of Lysosomal Diseases: Newborn Screening to Treatment.
  Fuller Maria et al. The Clinical biochemist. Reviews 2020 May 41(2) 53-66
• Health Related Quality of Life assessment among early-treated Hungarian adult PKU patients using the PKU-QOL adult questionnaire.
  Barta András Gellért et al. Molecular genetics and metabolism reports 2020 Jun 23100589
• The first study of successful pregnancies in Chinese patients with Phenylketonuria.
  Wang Lin et al. BMC pregnancy and childbirth 2020 Apr 20(1) 253
• Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion Summary, Number 802.
  et al. Obstetrics and gynecology 2020 Apr 135(4) 987-988
• Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion, Number 802.
  et al. Obstetrics and gynecology 2020 Apr 135(4) e167-e170
• 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
• 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