1. Mak, CM, Lee, HC, Chan, AY, Lam, CW. Inborn errors of metabolism and expanded newborn screening: review and update. Crit Rev Clin Lab Sci. 2013;50(6):142-162.
Google Scholar | Crossref | Medline2. Therrell, BL, Lloyd-Puryear, MA, Camp, KM, Mann, MY. Inborn errors of metabolism identified via newborn screening: ten-year incidence data and costs of nutritional interventions for research agenda planning. Mol Genet Metab. 2014;113(1-2):14-26.
Google Scholar | Crossref | Medline3. Eggink, H, Kuiper, A, Peall, KJ, et al. Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning. Orphanet J Rare Dis. 2014;9(1):177.
Google Scholar | Crossref | Medline4. De Meirleir, L, Rodan, LH. Approach to the patient with a metabolic disorder. In: Swaiman, KF, Ashwal, S, Ferriero, DM, et al. (eds) Swaiman’s Pediatric Neurology. Elsevier; 2017;277-285.
Google Scholar | Crossref5. Weiner, DL, Wilkes, G, Windle, LM, Wolfram, W, Halamka, J, Mallon, KW. Inborn errors of metabolism. Pediatrics. 2005.
Google Scholar | Medline6. Waters, D, Adeloye, D, Woolham, D, Wastnedge, E, Patel, S, Rudan, I. Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence. J Glob Health. 2018;8(2):021102.
Google Scholar | Crossref | Medline7. Williams, RA, Mamotte, CD, Burnett, JR. Phenylketonuria: an inborn error of phenylalanine metabolism. Clin Biochem Rev. 2008;29(1):31.
Google Scholar | Medline8. DeArmond, PD, Dietzen, DJ, Pyle-Eilola, AL. Amino Acids Disorders. Biomarkers in Inborn Errors of Metabolism: Clinical Aspects and Laboratory Determination. Elsevier; 2017:25-64.
Google Scholar | Crossref9. El-Metwally, A, Yousef Al-Ahaidib, L, Ayman Sunqurah, A, et al. The prevalence of phenylketonuria in Arab countries, Turkey, and Iran: a systematic review. Biomed Res Int. 2018;2018:7697210.
Google Scholar | Crossref | Medline10. Blau, N, van Spronsen, FJ, Levy, HL. Phenylketonuria. Lancet. 2010;376(9750):1417-1427.
Google Scholar | Crossref | Medline11. Guest, JF, Bai, JJ, Taylor, RR, Sladkevicius, E, Lee, PJ, Lachmann, RH. Costs and outcomes over 36 years of patients with phenylketonuria who do and do not remain on a phenylalanine-restricted diet. J Intellect Disabil Res. 2013;57(6):567-579.
Google Scholar | Crossref | Medline12. Loeber, JG. Neonatal screening in Europe; the situation in 2004. J Inherit Metab Dis. 2007;30(4):430-438.
Google Scholar | Crossref | Medline13. MacDonald, A, Gokmen-Ozel, H, van Rijn, M, Burgard, P. The reality of dietary compliance in the management of phenylketonuria. J Inherit Metab Dis. 2010;33(6):665-670.
Google Scholar | Crossref | Medline14. MacDonald, A, Smith, TA, de Silva, S, Alam, V, van Loon, JM. The personal burden for caregivers of children with phenylketonuria: a cross-sectional study investigating time burden and costs in the UK. Mol Genet Metab Rep. 2016;9:1-5.
Google Scholar | Crossref | Medline15. van Spronsen, FJ, Burgard, P. The truth of treating patients with phenylketonuria after childhood: the need for a new guideline. J Inherit Metab Dis. 2008;31(6):673-679.
Google Scholar | Crossref | Medline16. MacDonald, A, Asplin, D. Phenylketonuria: practical dietary management. J Fam Health Care. 2006;16(3):83-85.
Google Scholar | Medline17. Poustie, VJ, Wildgoose, J. Dietary interventions for phenylketonuria. Cochrane Database Syst Rev. 2010;1: CD001304.
Google Scholar18. Evans, S, Adam, S, Adams, S, et al. Uniformity of food protein interpretation amongst dietitians for patients with phenylketonuria (PKU): 2020 UK national consensus statements. Nutrients. 2020;12(8):2205.
Google Scholar | Crossref19. Eijgelshoven, I, Demirdas, S, Smith, TA, van Loon, JM, Latour, S, Bosch, AM. The time consuming nature of phenylketonuria: a cross-sectional study investigating time burden and costs of phenylketonuria in the Netherlands. Mol Genet Metab. 2013;109(3):237-242.
Google Scholar | Crossref | Medline20. Fabre, A, Baumstarck, K, Cano, A, et al. Assessment of quality of life of the children and parents affected by inborn errors of metabolism with restricted diet: preliminary results of a cross-sectional study. Health Qual Life Outcomes. 2013;11(1):158.
Google Scholar | Crossref | Medline21. Shaji Thomas, D, Mohd Wali Shakman, L, Saraswathy, K, Arulappan, J. Parenting a child with metabolic diseases: impact on health related quality of life of parents. Diabetes Metab Syndr Clin Res Rev. 2017;11(1):25-29.
Google Scholar | Crossref | Medline22. Streisand, R, Tercyak, KP. Parenting chronically III children the scope and impact of pediatric parenting stress. In: Hoghughi, M, Long, N (eds) Handbook of Parenting: Theory and Research for Practice. SAGE Publications Ltd; 2004;181-197.
Google Scholar | Crossref23. Lord, B, Wastell, C, Ungerer, J. Parent reactions to childhood phenylketonuria. Fam Syst Health. 2005;23(2):204-219.
Google Scholar | Crossref24. Cohen, MS. Families coping with childhood chronic illness: a research review. Fam Syst Health. 1999;17(2):149-164.
Google Scholar | Crossref25. Goldbeck, L, Storck, M. Das Ulmer lebensqualitäts-inventar für eltern chronisch kranker kinder (ULQIE). Z Klin Psychol Psychother. 2002;31(1):31-39.
Google Scholar | Crossref26. Khanna, D, Tsevat, J. Health-related quality of life-an introduction. Am J Manag Care. 2007;13(9):S218.
Google Scholar | Medline27. Zeltner, NA, Huemer, M, Baumgartner, MR, Landolt, MA. Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism – a systematic review. Orphanet J Rare Dis. 2014;9(1):159.
Google Scholar | Crossref | Medline28. Moher, D, Liberati, A, Tetzlaff, J, Altman, DG; The PRISMA Group (2009). Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. PLoS Med 6(6):e1000097. doi:10.1371/journal.pmed1000097
Google Scholar | Crossref29. Sterne, JA, Hernán, MA, Reeves, BC, et al. ROBINS-I: a tool for assessing risk of bias in non-randomised studies of interventions. BMJ. 2016;355:i4919.
Google Scholar30. National Heart, Lung, and Blood Institute . Quality Assessment Tool for Observational Cohort and Cross-Sectional Studies. National Institutes of Health, Department of Health and Human Services; 2014.
Google Scholar31. Fidika, A, Salewski, C, Goldbeck, L. Quality of life among parents of children with phenylketonuria (PKU). Health Qual Life Outcomes. 2013;11(1):54.
Google Scholar | Crossref | Medline32. Etemad, K, Heidari, A, Setoodeh, A, et al. Health-related quality of life of parents of children with phenylketonuria in Tehran province, Islamic Republic of Iran. East Mediterr Health J. 2020;26:331-339.
Google Scholar | Crossref | Medline33. Irannejad, F, Dehghan, M, Mehdipour Rabori, R. Stress and quality of life in parents of children with phenylketonuria. J Child Adolesc Psychiatr Nums. 2018;31(2-3):48-52.
Google Scholar | Crossref | Medline34. Yamaguchi, K, Wakimizu, R, Kubota, M. Quality of life and associated factors in Japanese children with inborn errors of metabolism and their families. J Inborn Errors Metab Screen. 2018;6.
Google Scholar | SAGE Journals35. Mahmoudi-Gharaei, J, Mostafavi, S, Alirezaei, N. Quality of life and the associated psychological factors in caregivers of children with PKU. Iran J Psychiatr. 2011;6(2):66-69.
Google Scholar | Medline36. ten Hoedt, AE, Maurice-Stam, H, Boelen, CC, et al. Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life. J Inherit Metab Dis. 2011;34(2):391-398.
Google Scholar | Crossref | Medline37. Morawska, A, Mitchell, AE, Etel, E, et al. Psychosocial functioning in children with phenylketonuria: relationships between quality of life and parenting indicators. Child Care Health Dev. 2020;46(1):56-65.
Google Scholar | Crossref | Medline38. Feldmann, R, Wolfgart, E, Weglage, J, Rutsch, F. Sapropterin treatment does not enhance the health-related quality of life of patients with phenylketonuria and their parents. Acta Paediatr. 2017;106(6):953-959.
Google Scholar | Crossref | Medline39. Mortazavi, Z, Tapak, L, Mortazavi, SS, Golchin, MD. Health-Related quality of life of mothers of children with phenylketonuria. Casp J Neurol Sci. 2020;6(3):156-163.
Google Scholar | Crossref