Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial

Scriver, 2001, Hyperphenylalaninemia: phenylalanine hydroxylase deficiency, 1667

Mitchell, 2011, Phenylalanine hydroxylase deficiency, Genet Med, 13, 697, 10.1097/GIM.0b013e3182141b48

Ozalp, 1990, Inherited metabolic disorders in Turkey, J Inherit Metab Dis, 13, 732, 10.1007/BF01799576

DiLella, 1986, Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene, Biochemistry, 25, 743, 10.1021/bi00352a001

Aoki, 2003, Long term follow-up of patients with inborn errors of metabolism detected by the newborn screening program in Japan, Southeast Asian J Trop Med Public Health, 34, 19

2001, National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16–18, 2000, Pediatrics, 108, 972, 10.1542/peds.108.4.972

Fisch, 2000, Comments on diet and compliance in phenylketonuria, Eur J Pediatr, 159, S142, 10.1007/PL00014378

Walter, 2002, How practical are recommendations for dietary control in phenylketonuria?, Lancet, 360, 55, 10.1016/S0140-6736(02)09334-0

Azen, 1996, Summary of findings from the United States Collaborative Study of children treated for phenylketonuria, Eur J Pediatr, 155, S29, 10.1007/BF03036507

White, 2001, Deficits in memory strategy use related to prefrontal dysfunction during early development: evidence from children with phenylketonuria, Neuropsychology, 15, 221, 10.1037/0894-4105.15.2.221

White, 2002, Age-related working memory impairments in children with prefrontal dysfunction associated with phenylketonuria, J Int Neuropsychol Soc, 8, 1, 10.1017/S1355617702811018

Leuzzi, 2004, Executive function impairment in early-treated PKU subjects with normal mental development, J Inherit Metab Dis, 27, 115, 10.1023/B:BOLI.0000028781.94251.1f

Feldmann, 2005, Frontal lobe-dependent functions in treated phenylketonuria: blood phenylalanine concentrations and long-term deficits in adolescents and young adults, J Inherit Metab Dis, 28, 445, 10.1007/s10545-005-0445-7

Gassió, 2005, School performance in early and continuously treated phenylketonuria, Pediatr Neurol, 33, 267, 10.1016/j.pediatrneurol.2005.05.003

Sarkissian, 2008, Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria, Proc Natl Acad Sci USA, 105, 20894, 10.1073/pnas.0808421105

Gregory, 2007, Blood phenylalanine monitoring for dietary compliance among patients with phenylketonuria: comparison of methods, Genet Med, 9, 761, 10.1097/GIM.0b013e318159a355