Last Posted: Dec 03, 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.
Potter Beth K et al. Trials 2017 Dec 18(1) 603
- Assessing the Phenylketonuria Screening Program in Newborns, Iran 2015-2016.
Ganji Foruzan et al. Acta medica Iranica 2018 Jan 56(1) 49-55
- Genetic testing is coming of age, but for consumers it's buyer beware
E Sheng, CNBC, July 17, 2018
- Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.
Shibata Naoaki et al. Molecular genetics and metabolism reports 2018 Sep 165-10