Phenylketonuria (English Wikipedia)

Al Hafid N, Christodoulou J (October 2015). "Phenylketonuria: a review of current and future treatments". Translational Pediatrics. 4 (4): 304–17. doi:10.3978/j.issn.2224-4336.2015.10.07. PMC 4728993. PMID 26835392.
Cannon Homaei S, Barone H, Kleppe R, Betari N, Reif A, Haavik J (November 2021). "ADHD symptoms in neurometabolic diseases: Underlying mechanisms and clinical implications". Neuroscience and Biobehavioral Reviews. 132: 838–856. doi:10.1016/j.neubiorev.2021.11.012. PMID 34774900. S2CID 243983688.
Martinez M, Harding CO, Schwank G, Thöny B (January 2024). "State-of-the-art 2023 on gene therapy for phenylketonuria". Journal of Inherited Metabolic Disease. 47 (1): 80–92. doi:10.1002/jimd.12651. ISSN 0141-8955. PMC 10764640. PMID 37401651.
Berry SA, Brown C, Grant M, Greene CL, Jurecki E, Koch J, Moseley K, Suter R, van Calcar SC, Wiles J, Cederbaum S (August 2013). "Newborn screening 50 years later: access issues faced by adults with PKU". Genetics in Medicine. 15 (8): 591–9. doi:10.1038/gim.2013.10. PMC 3938172. PMID 23470838.
Burton BK, Jones KB, Cederbaum S, Rohr F, Waisbren S, Irwin DE, et al. (2018). "Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria". Mol Genet Metab. 125 (3): 228–234. doi:10.1016/j.ymgme.2018.09.006. PMID 30266197.{{cite journal}}: CS1 maint: multiple names: authors list (link)
Trefz KF, Muntau AC, Kohlscheen KM, Altevers J, Jacob C, Braun S, et al. (2019). "Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data". Orphanet J Rare Dis. 14 (1): 181. doi:10.1186/s13023-019-1153-y. PMC 6647060. PMID 31331350.{{cite journal}}: CS1 maint: multiple names: authors list (link)
Gonzalez J, Willis MS (Feb 2010). "Ivar Asbjörn Følling". Laboratory Medicine. 41 (2): 118–119. doi:10.1309/LM62LVV5OSLUJOQF.
Ashe K, Kelso W, Farrand S, Panetta J, Fazio T, De Jong G, Walterfang M (2019). "Psychiatric and Cognitive Aspects of Phenylketonuria: The Limitations of Diet and Promise of New Treatments". Front. Psychiatry. 10 (561): 561. doi:10.3389/fpsyt.2019.00561. PMC 6748028. PMID 31551819.
de la Parra A, García MI, Waisbren SE, Cornejo V, Raimann E (December 2015). "Cognitive functioning in mild hyperphenylalaninemia". Molecular Genetics and Metabolism Reports. 5: 72–75. doi:10.1016/j.ymgmr.2015.10.009. PMC 5471391. PMID 28649547.
Pietz J, Kreis R, Rupp A, Mayatepek E, Rating D, Boesch C, Bremer HJ (1999). "Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria". Journal of Clinical Investigation. 103 (8): 1169–1178. doi:10.1172/JCI5017. PMC 408272. PMID 10207169.
Enns GM, Koch R, Brumm V, Blakely E, Suter R, Jurecki E (1 October 2010). "Suboptimal outcomes in patients with PKU treated early with diet alone: Revisiting the evidence". Molecular Genetics and Metabolism. 101 (2–3): 99–109. doi:10.1016/j.ymgme.2010.05.017. PMID 20678948.
Terribilli D, Schaufelberger MS (10 May 2020). "Age-related gray matter volume changes in the brain during non-elderly adulthood". Neurobiology of Aging. 32 (2–6): 354–368. doi:10.1016/j.neurobiolaging.2009.02.008. PMC 3004040. PMID 19282066.
Hawks Z, Hood AM, Lerman-Sinkoff DB, Shimony JS, Rutlin J, Lagoni D, Grange DK, White DA (2019-01-01). "White and gray matter brain development in children and young adults with phenylketonuria". NeuroImage: Clinical. 23: 101916. doi:10.1016/j.nicl.2019.101916. ISSN 2213-1582. PMC 6627563. PMID 31491833.
Adler-Abramovich L, Vaks L, Carny O, Trudler D, Magno A, Caflisch A, Frenkel D, Gazit E (August 2012). "Phenylalanine assembly into toxic fibrils suggests amyloid etiology in phenylketonuria". Nature Chemical Biology. 8 (8): 701–6. doi:10.1038/nchembio.1002. PMID 22706200.
Surtees R, Blau N (2000). "The neurochemistry of phenylketonuria". European Journal of Pediatrics. 169: S109–S113. doi:10.1007/PL00014370. PMID 11043156. S2CID 26196359.
Opladen T, López-Laso E (26 May 2020). "Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies". Orphanet Journal of Rare Diseases. 15 (1): 126. doi:10.1186/s13023-020-01379-8. PMC 7251883. PMID 32456656.
Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, García-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O (May 2020). "Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies". Orphanet Journal of Rare Diseases. 15 (1): 126. doi:10.1186/s13023-020-01379-8. PMC 7251883. PMID 32456656.
Michals K, Matalon R (1985). "Phenylalanine metabolites, attention span and hyperactivity". American Journal of Clinical Nutrition. 42 (2): 361–5. doi:10.1093/ajcn/42.2.361. PMID 4025205.
Widaman KF (2009-02-01). "Phenylketonuria in Children and Mothers: Genes, Environments, Behavior". Current Directions in Psychological Science. 18 (1): 48–52. doi:10.1111/j.1467-8721.2009.01604.x. ISSN 0963-7214. PMC 2705125. PMID 20126294.
MacDonald A, Rylance GW, Asplin D, Hall SK, Booth IW (1998). "Does a single plasma phenylalanine predict the quality of control in phenylketonuria?". Archives of Disease in Childhood. 78 (2): 122–6. doi:10.1136/adc.78.2.122. PMC 1717471. PMID 9579152.
van Spronsen FJ, de Groot MJ, Hoeksma M, Reijngoud DJ, van Rijn M (December 2010). "Large neutral amino acids in the treatment of PKU: from theory to practice". Journal of Inherited Metabolic Disease. 33 (6): 671–6. doi:10.1007/s10545-010-9216-1. PMC 2992655. PMID 20976625.
Etzel MR (Apr 2004). "Manufacture and use of dairy protein fractions". The Journal of Nutrition. 134 (4): 996S–1002S. doi:10.1093/jn/134.4.996S. PMID 15051860.
van Calcar SC, MacLeod EL, Gleason ST, Etzel MR, Clayton MK, Wolff JA, Ney DM (Apr 2009). "Improved nutritional management of phenylketonuria by using a diet containing glycomacropeptide compared with amino acids". The American Journal of Clinical Nutrition. 89 (4): 1068–77. doi:10.3945/ajcn.2008.27280. PMC 2667457. PMID 19244369.
MacLeod EL, Clayton MK, van Calcar SC, Ney DM (August 2010). "Breakfast with glycomacropeptide compared with amino acids suppresses plasma ghrelin levels in individuals with phenylketonuria". Molecular Genetics and Metabolism. 100 (4): 303–8. doi:10.1016/j.ymgme.2010.04.003. PMC 2906609. PMID 20466571.
Burton BK, Kar S, Kirkpatrick P (2008). "Sapropterin". Nature Reviews Drug Discovery. 7 (3): 199–200. doi:10.1038/nrd2540. S2CID 263991793.
Michals-Matalon K (February 2008). "Sapropterin dihydrochloride, 6-R-L-erythro-5,6,7,8-tetrahydrobiopterin, in the treatment of phenylketonuria". Expert Opinion on Investigational Drugs. 17 (2): 245–51. doi:10.1517/13543784.17.2.245. PMID 18230057. S2CID 207475494.
Lee PJ, Ridout D, Walter JH, Cockburn F (2005). "Maternal phenylketonuria: report from the United Kingdom Registry 1978–97". Archives of Disease in Childhood. 90 (2): 143–146. doi:10.1136/adc.2003.037762. PMC 1720245. PMID 15665165.
Rouse B, Azen C, Koch R, Matalon R, Hanley W, de la Cruz F, Trefz F, Friedman E, Shifrin H (1997). "Maternal phenylketonuria collaborative study (MPKUCS) offspring: Facial anomalies, malformations, and early neurological sequelae". American Journal of Medical Genetics. 69 (1): 89–95. doi:10.1002/(SICI)1096-8628(19970303)69:1<89::AID-AJMG17>3.0.CO;2-K. PMID 9066890.
DiLella AG, Kwok SC, Ledley FD, Marvit J, Woo SL (1986). "Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene". Biochemistry. 25 (4): 743–749. doi:10.1021/bi00352a001. PMID 3008810.
Lee DH, Koo SK, Lee KS, Yeon YJ, Oh HJ, Kim SW, Lee SJ, Kim SS, Lee JE, Jo I, Jung SC (2004). "The molecular basis of phenylketonuria in Koreans". Journal of Human Genetics. 49 (1): 617–621. doi:10.1007/s10038-004-0197-5. PMID 15503242. S2CID 21446773.
Bickel, H., Bachmann, C., Beckers, R., Brandt, N.J., Clayton, B.E., Corrado, G, et al. (1981). "Neonatal mass screening for metabolic disorders". European Journal of Pediatrics. 137 (137): 133–139. doi:10.1007/BF00441305. S2CID 44705699.
Følling A (1 January 1934). "Über Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillität". Hoppe-Seyler's Zeitschrift für Physiologische Chemie. 227 (1–4): 169–181. doi:10.1515/bchm2.1934.227.1-4.169.
Centerwall SA, Centerwall WR (2000). "The discovery of phenylketonuria: the story of a young couple, two affected children, and a scientist". Pediatrics. 105 (1 Pt 1): 89–103. doi:10.1542/peds.105.1.89. PMID 10617710. S2CID 35922780.
Mitchell JJ, Trakadis YJ, Scriver CR (2011). "Phenylalanine hydroxylase deficiency". Genetics in Medicine. 13 (8): 697–707. doi:10.1097/GIM.0b013e3182141b48. PMID 21555948. S2CID 25921607.
Kasper DC, Ratschmann R, Metz TF, Mechtler TP, Möslinger D, Konstantopoulou V, Item CB, Pollak A, Herkner KR (2010). "The National Austrian Newborn Screening Program – Eight years experience with mass spectrometry. Past, present, and future goals". Wiener Klinische Wochenschrift. 122 (21–22): 607–613. doi:10.1007/s00508-010-1457-3. PMID 20938748. S2CID 27643449.
Komrower GM, Sardharwalla IB, Fowler B, Bridge C (1979). "The Manchester regional screening programme: A 10-year exercise in patient and family care". British Medical Journal. 2 (6191): 635–638. doi:10.1136/bmj.2.6191.635. PMC 1596331. PMID 497752.
van Wegberg AM, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ (October 2017). "The complete European guidelines on phenylketonuria: diagnosis and treatment". Orphanet Journal of Rare Diseases. 12 (1): 162. doi:10.1186/s13023-017-0685-2. PMC 5639803. PMID 29025426.
Hagedorn TS, van Berkel P, Hammerschmidt G, Lhotáková M, Saludes RP (December 2013). "Requirements for a minimum standard of care for phenylketonuria: the patients' perspective". Orphanet Journal of Rare Diseases. 8 (1): 191. doi:10.1186/1750-1172-8-191. PMC 3878574. PMID 24341788.
Burgard P, Ullrich K, Ballhausen D, Hennermann JB, Hollak CE, Langeveld M, Karall D, Konstantopoulou V, Maier EM, Lang F, Lachmann R, Murphy E, Garbade S, Hoffmann GF, Kölker S, Lindner M, Zschocke J (September 2017). "Issues with European guidelines for phenylketonuria". The Lancet. Diabetes & Endocrinology. 5 (9): 681–683. doi:10.1016/S2213-8587(17)30201-2. PMID 28842158.

espku.org

"PKU: Closing the Gaps in Care" (PDF). Retrieved Aug 28, 2020.
"Consensus Paper - E.S.PKU". E.S.PKU. Retrieved 2018-11-23.

fda.gov

"Press Announcements - FDA approves a new treatment for PKU, a rare and serious genetic disease". www.fda.gov. Retrieved 9 December 2018.

accessdata.fda.gov

"CFR – Code of Federal Regulations, Title 21, Part 172: Food additives permitted for direct addition to food for human consumption. Subpart I – Multipurpose Additives; Sec. 172.804 Aspartame". US Food and Drug Administration. 1 April 2018. Retrieved 22 August 2019.

healthlinkbc.ca

"Phenylketonuria (PKU) Test". HealthLink BC. Archived from the original on May 17, 2018. Retrieved Aug 28, 2020.

lexico.com

"Phenylketonuria". Lexico UK English Dictionary. Oxford University Press. Archived from the original on 2020-08-05.

lsuhsc.edu

medschool.lsuhsc.edu

lsuhsc.edu Archived 2008-04-08 at the Wayback Machine Genetics and Louisiana Families

madriella.org

"Phenylketonuria (PKU)". Madriella Doula Network. Madriella Network. 14 October 2016. Retrieved 11 April 2021.

markerdb.ca

"Phenylketonuria". MarkerDB. Wishart Research Group. Retrieved 11 April 2021.

mayoclinic.com

Mayo Clinic Staff (2007-12-20). "Phenylketonuria (PKU)". Mayo Clinic. Archived from the original on 2008-03-17. Retrieved 2008-03-13.

mayoclinic.org

"Phenylketonuria (PKU) - Symptoms and causes". Mayo Clinic. Retrieved 2020-03-10.

medscape.com

emedicine.medscape.com

Phenylketonuria at eMedicine

merriam-webster.com

"Phenylketonuria". Merriam-Webster.com Dictionary.

nih.gov

pubmed.ncbi.nlm.nih.gov

Al Hafid N, Christodoulou J (October 2015). "Phenylketonuria: a review of current and future treatments". Translational Pediatrics. 4 (4): 304–17. doi:10.3978/j.issn.2224-4336.2015.10.07. PMC 4728993. PMID 26835392.
Cannon Homaei S, Barone H, Kleppe R, Betari N, Reif A, Haavik J (November 2021). "ADHD symptoms in neurometabolic diseases: Underlying mechanisms and clinical implications". Neuroscience and Biobehavioral Reviews. 132: 838–856. doi:10.1016/j.neubiorev.2021.11.012. PMID 34774900. S2CID 243983688.
Martinez M, Harding CO, Schwank G, Thöny B (January 2024). "State-of-the-art 2023 on gene therapy for phenylketonuria". Journal of Inherited Metabolic Disease. 47 (1): 80–92. doi:10.1002/jimd.12651. ISSN 0141-8955. PMC 10764640. PMID 37401651.
Berry SA, Brown C, Grant M, Greene CL, Jurecki E, Koch J, Moseley K, Suter R, van Calcar SC, Wiles J, Cederbaum S (August 2013). "Newborn screening 50 years later: access issues faced by adults with PKU". Genetics in Medicine. 15 (8): 591–9. doi:10.1038/gim.2013.10. PMC 3938172. PMID 23470838.
Burton BK, Jones KB, Cederbaum S, Rohr F, Waisbren S, Irwin DE, et al. (2018). "Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria". Mol Genet Metab. 125 (3): 228–234. doi:10.1016/j.ymgme.2018.09.006. PMID 30266197.{{cite journal}}: CS1 maint: multiple names: authors list (link)
Trefz KF, Muntau AC, Kohlscheen KM, Altevers J, Jacob C, Braun S, et al. (2019). "Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data". Orphanet J Rare Dis. 14 (1): 181. doi:10.1186/s13023-019-1153-y. PMC 6647060. PMID 31331350.{{cite journal}}: CS1 maint: multiple names: authors list (link)
Woolf LI (May 1986). "The heterozygote advantage in phenylketonuria". American Journal of Human Genetics. 38 (5): 773–5. PMC 1684820. PMID 3717163.
Ashe K, Kelso W, Farrand S, Panetta J, Fazio T, De Jong G, Walterfang M (2019). "Psychiatric and Cognitive Aspects of Phenylketonuria: The Limitations of Diet and Promise of New Treatments". Front. Psychiatry. 10 (561): 561. doi:10.3389/fpsyt.2019.00561. PMC 6748028. PMID 31551819.
Regier DS, Greene CL (July 25, 1993). "Phenylalanine Hydroxylase Deficiency". In Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJ, Gripp KW, Amemiya A (eds.). GeneReviews®. University of Washington, Seattle. PMID 20301677 – via PubMed.
de la Parra A, García MI, Waisbren SE, Cornejo V, Raimann E (December 2015). "Cognitive functioning in mild hyperphenylalaninemia". Molecular Genetics and Metabolism Reports. 5: 72–75. doi:10.1016/j.ymgmr.2015.10.009. PMC 5471391. PMID 28649547.
Pietz J, Kreis R, Rupp A, Mayatepek E, Rating D, Boesch C, Bremer HJ (1999). "Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria". Journal of Clinical Investigation. 103 (8): 1169–1178. doi:10.1172/JCI5017. PMC 408272. PMID 10207169.
Enns GM, Koch R, Brumm V, Blakely E, Suter R, Jurecki E (1 October 2010). "Suboptimal outcomes in patients with PKU treated early with diet alone: Revisiting the evidence". Molecular Genetics and Metabolism. 101 (2–3): 99–109. doi:10.1016/j.ymgme.2010.05.017. PMID 20678948.
Terribilli D, Schaufelberger MS (10 May 2020). "Age-related gray matter volume changes in the brain during non-elderly adulthood". Neurobiology of Aging. 32 (2–6): 354–368. doi:10.1016/j.neurobiolaging.2009.02.008. PMC 3004040. PMID 19282066.
Hawks Z, Hood AM, Lerman-Sinkoff DB, Shimony JS, Rutlin J, Lagoni D, Grange DK, White DA (2019-01-01). "White and gray matter brain development in children and young adults with phenylketonuria". NeuroImage: Clinical. 23: 101916. doi:10.1016/j.nicl.2019.101916. ISSN 2213-1582. PMC 6627563. PMID 31491833.
Adler-Abramovich L, Vaks L, Carny O, Trudler D, Magno A, Caflisch A, Frenkel D, Gazit E (August 2012). "Phenylalanine assembly into toxic fibrils suggests amyloid etiology in phenylketonuria". Nature Chemical Biology. 8 (8): 701–6. doi:10.1038/nchembio.1002. PMID 22706200.
Surtees R, Blau N (2000). "The neurochemistry of phenylketonuria". European Journal of Pediatrics. 169: S109–S113. doi:10.1007/PL00014370. PMID 11043156. S2CID 26196359.
Opladen T, López-Laso E (26 May 2020). "Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies". Orphanet Journal of Rare Diseases. 15 (1): 126. doi:10.1186/s13023-020-01379-8. PMC 7251883. PMID 32456656.
Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, García-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O (May 2020). "Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies". Orphanet Journal of Rare Diseases. 15 (1): 126. doi:10.1186/s13023-020-01379-8. PMC 7251883. PMID 32456656.
Michals K, Matalon R (1985). "Phenylalanine metabolites, attention span and hyperactivity". American Journal of Clinical Nutrition. 42 (2): 361–5. doi:10.1093/ajcn/42.2.361. PMID 4025205.
Widaman KF (2009-02-01). "Phenylketonuria in Children and Mothers: Genes, Environments, Behavior". Current Directions in Psychological Science. 18 (1): 48–52. doi:10.1111/j.1467-8721.2009.01604.x. ISSN 0963-7214. PMC 2705125. PMID 20126294.
MacDonald A, Rylance GW, Asplin D, Hall SK, Booth IW (1998). "Does a single plasma phenylalanine predict the quality of control in phenylketonuria?". Archives of Disease in Childhood. 78 (2): 122–6. doi:10.1136/adc.78.2.122. PMC 1717471. PMID 9579152.
van Spronsen FJ, de Groot MJ, Hoeksma M, Reijngoud DJ, van Rijn M (December 2010). "Large neutral amino acids in the treatment of PKU: from theory to practice". Journal of Inherited Metabolic Disease. 33 (6): 671–6. doi:10.1007/s10545-010-9216-1. PMC 2992655. PMID 20976625.
Etzel MR (Apr 2004). "Manufacture and use of dairy protein fractions". The Journal of Nutrition. 134 (4): 996S–1002S. doi:10.1093/jn/134.4.996S. PMID 15051860.
van Calcar SC, MacLeod EL, Gleason ST, Etzel MR, Clayton MK, Wolff JA, Ney DM (Apr 2009). "Improved nutritional management of phenylketonuria by using a diet containing glycomacropeptide compared with amino acids". The American Journal of Clinical Nutrition. 89 (4): 1068–77. doi:10.3945/ajcn.2008.27280. PMC 2667457. PMID 19244369.
MacLeod EL, Clayton MK, van Calcar SC, Ney DM (August 2010). "Breakfast with glycomacropeptide compared with amino acids suppresses plasma ghrelin levels in individuals with phenylketonuria". Molecular Genetics and Metabolism. 100 (4): 303–8. doi:10.1016/j.ymgme.2010.04.003. PMC 2906609. PMID 20466571.
Michals-Matalon K (February 2008). "Sapropterin dihydrochloride, 6-R-L-erythro-5,6,7,8-tetrahydrobiopterin, in the treatment of phenylketonuria". Expert Opinion on Investigational Drugs. 17 (2): 245–51. doi:10.1517/13543784.17.2.245. PMID 18230057. S2CID 207475494.
Lee PJ, Ridout D, Walter JH, Cockburn F (2005). "Maternal phenylketonuria: report from the United Kingdom Registry 1978–97". Archives of Disease in Childhood. 90 (2): 143–146. doi:10.1136/adc.2003.037762. PMC 1720245. PMID 15665165.
Rouse B, Azen C, Koch R, Matalon R, Hanley W, de la Cruz F, Trefz F, Friedman E, Shifrin H (1997). "Maternal phenylketonuria collaborative study (MPKUCS) offspring: Facial anomalies, malformations, and early neurological sequelae". American Journal of Medical Genetics. 69 (1): 89–95. doi:10.1002/(SICI)1096-8628(19970303)69:1<89::AID-AJMG17>3.0.CO;2-K. PMID 9066890.
Williams RA, Mamotte CD, Burnett JR (February 2008). "Phenylketonuria: an inborn error of phenylalanine metabolism". The Clinical Biochemist. Reviews. 29 (1): 31–41. PMC 2423317. PMID 18566668.
DiLella AG, Kwok SC, Ledley FD, Marvit J, Woo SL (1986). "Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene". Biochemistry. 25 (4): 743–749. doi:10.1021/bi00352a001. PMID 3008810.
Lee DH, Koo SK, Lee KS, Yeon YJ, Oh HJ, Kim SW, Lee SJ, Kim SS, Lee JE, Jo I, Jung SC (2004). "The molecular basis of phenylketonuria in Koreans". Journal of Human Genetics. 49 (1): 617–621. doi:10.1007/s10038-004-0197-5. PMID 15503242. S2CID 21446773.
Borg C, Mondot S, Mestre M, Cavero I (November 1991). "Nicorandil: differential contribution of K+ channel opening and guanylate cyclase stimulation to its vasorelaxant effects on various endothelin-1-contracted arterial preparations. Comparison to aprikalim (RP 52891) and nitroglycerin". The Journal of Pharmacology and Experimental Therapeutics. 259 (2): 526–34. PMID 1682478.
Centerwall SA, Centerwall WR (2000). "The discovery of phenylketonuria: the story of a young couple, two affected children, and a scientist". Pediatrics. 105 (1 Pt 1): 89–103. doi:10.1542/peds.105.1.89. PMID 10617710. S2CID 35922780.
Williams RA, Mamotte CD, Burnett JR (2008). "Phenylketonuria: an inborn error of phenylalanine metabolism". The Clinical Biochemist Reviews. 29 (1): 31–41. PMC 2423317. PMID 18566668. Mild oxidation of the purified substance produced a compound which smelled of benzoic acid, leading Følling to postulate that the compound was phenylpyruvic acid.3 There was no change in the melting point upon mixing of the unknown compound with phenylpyruvic acid thus confirming the mystery compound was indeed phenylpyruvic acid.
Mitchell JJ, Trakadis YJ, Scriver CR (2011). "Phenylalanine hydroxylase deficiency". Genetics in Medicine. 13 (8): 697–707. doi:10.1097/GIM.0b013e3182141b48. PMID 21555948. S2CID 25921607.
Kasper DC, Ratschmann R, Metz TF, Mechtler TP, Möslinger D, Konstantopoulou V, Item CB, Pollak A, Herkner KR (2010). "The National Austrian Newborn Screening Program – Eight years experience with mass spectrometry. Past, present, and future goals". Wiener Klinische Wochenschrift. 122 (21–22): 607–613. doi:10.1007/s00508-010-1457-3. PMID 20938748. S2CID 27643449.
Komrower GM, Sardharwalla IB, Fowler B, Bridge C (1979). "The Manchester regional screening programme: A 10-year exercise in patient and family care". British Medical Journal. 2 (6191): 635–638. doi:10.1136/bmj.2.6191.635. PMC 1596331. PMID 497752.
van Wegberg AM, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ (October 2017). "The complete European guidelines on phenylketonuria: diagnosis and treatment". Orphanet Journal of Rare Diseases. 12 (1): 162. doi:10.1186/s13023-017-0685-2. PMC 5639803. PMID 29025426.
Hagedorn TS, van Berkel P, Hammerschmidt G, Lhotáková M, Saludes RP (December 2013). "Requirements for a minimum standard of care for phenylketonuria: the patients' perspective". Orphanet Journal of Rare Diseases. 8 (1): 191. doi:10.1186/1750-1172-8-191. PMC 3878574. PMID 24341788.
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