Last Posted: Dec 14, 2018
- Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria
N Longo et al, Genetics in Medicine, December 14, 2018 - A Proposed Approach for Implementing Genomics-Based Screening Programs for Healthy Adults
M. Murray and the Genomics and Population Health Action Collaborative, National Academies of Medicine, December 3, 2018 - Can untreated PKU patients escape from intellectual disability? A systematic review.
van Vliet Danique et al. Orphanet journal of rare diseases 2018 Aug (1) 149 - Phenylalanine ammonia lyase (PAL): From discovery to enzyme substitution therapy for phenylketonuria.
Levy Harvey L et al. Molecular genetics and metabolism 2018 Aug (4) 223-229 - Haplotype-based Noninvasive Prenatal Diagnosis of Hyperphenylalaninemia through Targeted Sequencing of Maternal Plasma.
Ye Jun et al. Scientific reports 2018 8(1) 161 - 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, Switzerland) 2015 3(4) 1133-57 - Scientists Are Retooling Bacteria to Cure Disease By manipulating DNA, researchers are trying to create microbes that, once ingested, work to treat a rare genetic condition —a milestone in synthetic biology.
C Zimmer, NY Times, September 4, 2018 - Early feeding practices in infants with phenylketonuria across Europe.
Pinto A et al. Molecular genetics and metabolism reports 2018 Sep 1682-89 - Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys.
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Ganji Foruzan et al. Acta medica Iranica 2018 Jan 56(1) 49-55
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