Management
Guidelines
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PKU Nutrition Management Guidelines
First Edition
March 2015, v.1.12
Updated: August 2016
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References

Analyzed Literature

ID Reference
G.89
Bernstein, L., Tonyes, L. (2009, Juky 22).  Creatine and PKU.  Message posted to Metabolic Dietician List,  <PNO-METAB-L@LISTSERV.CC.EMORY.EDU>
G.103
(2001) DISORDERS OF AMINO ACID METABOLISM Aromatic Amino Acids. PROTOCOL 2 Maternal Phenylketonuria (MPKU) Nutrition Support of Pregnant Women With Phenylketonuria (PKU) With PHENEX™-2 Amino Acid-Modified Medical Food. In The Ross Metabolic Formula System Nutrition Support Protocols, 4th Edition (pp.33-48). Columbus, OH
F.1144
Abdel-Salam, A.M., & Effat, L.K. (Feb 2010). Preparation and evaluation of a novel therapeutic dairy-based drink for phenylketonuria. N Am J Med Sci, 2, 66-70. doi:10.4297/najms.2010.266
G.101
Acosta, P. B. & Matalon, K. M. (2010). Nutrition Management of Patients with Inherited Disorders of Aromatic Amino Acid Metabolism. In P. B. Acosta, Nutrition Management of patients with Inherited Metabolic Disorders (pp. 119-127). Sudbury, MA: Jones and Bartlett Publishers.
G.107
Acosta, P.B. (2010, April). Questions and/or Concerns with Use of GMP, Peg-PAL and the Home Monitor in Patients with PKU. [PowerPoint slides]. Paper presented at the 3rd GMDI Conference. Baltimore, Maryland.
F.1245
Acosta, P.B., Matalon, K., Castiglioni, L., Rohr, F.J., Wenz, E., Austin, V., & Azen, C. (Apr 2001). Intake of major nutrients by women in the Maternal Phenylketonuria (MPKU) Study and effects on plasma phenylalanine concentrations. Am. J. Clin. Nutr., 73(4):792-6.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/11273855
F.1344
Acosta, P.B., Yannicelli, S., Singh, R., Mofidi, S., Steiner, R., DeVincentis, E., Jurecki, E., Bernstein, L., Gleason, S., Chetty, M., & Rouse, B. (Sep 2003). Nutrient intakes and physical growth of children with phenylketonuria undergoing nutrition therapy. J Am Diet Assoc, 103, 1167-73. doi:10.1016/S0002-8223(03)00983-0
F.1518
AFDPHE (Association Française pour le Dépistage et la Prévention des Handicaps de l’Enfant), Teissier, R., Nowak, E., Assoun, M., Mention, K., Cano, A., Fouilhoux, A., Feillet, F., Ogier, H., Oger, E., & de Parscau, L. (Nov 2012). Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardation. J. Inherit. Metab. Dis., 35, 993-9. doi:10.1007/s10545-012-9491-0
F.2200
Agostoni, C., & Heird, W. (Jan 2004). Long chain polyunsaturated fatty acids in chronic childhood disorders: panacea, promising, or placebo. J. Pediatr. Gastroenterol. Nutr., 38(1):2-3.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/14676585
F.1345
Agostoni, C., Harvie, A., McCulloch, D.L., Demellweek, C., Cockburn, F., Giovannini, M., Murray, G., Harkness, R.A., & Riva, E. (Mar 2006). A randomized trial of long-chain polyunsaturated fatty acid supplementation in infants with phenylketonuria. Dev Med Child Neurol, 48, 207-12. doi:10.1017/S0012162206000442
F.2517
Agostoni, C., Verduci, E., Fiori, L., Riva, E., & Giovannini, M. (Mar 2000). Breastfeeding rates among hyperphenylalaninemic infants. Acta Paediatr., 89(3):366-7.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10772290
F.2228
Agostoni, C., Verduci, E., Massetto, N., Radaelli, G., Riva, E., & Giovannini, M. (Apr 2003). Plasma long-chain polyunsaturated fatty acids and neurodevelopment through the first 12 months of life in phenylketonuria. Dev Med Child Neurol, 45(4):257-61.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12647927
F.2542
Ahring, K., Bélanger-Quintana, A., Dokoupil, K., Gokmen Ozel, H., Lammardo, A.M., MacDonald, A., Motzfeldt, K., Nowacka, M., Robert, M., & van Rijn, M. (Jun 2009). Dietary management practices in phenylketonuria across European centres. Clin Nutr, 28, 231-6. doi:10.1016/j.clnu.2009.03.004
F.1346
Ahring, K., Bélanger-Quintana, A., Dokoupil, K., Gokmen-Ozel, H., Lammardo, A.M., MacDonald, A., Motzfeldt, K., Nowacka, M., Robert, M., & van Rijn, M. (Feb 2011). Blood phenylalanine control in phenylketonuria: a survey of 10 European centres. Eur J Clin Nutr, 65, 275-8. doi:10.1038/ejcn.2010.258
F.1175
Ahring, K.K. (Dec 2010). Large neutral amino acids in daily practice. J. Inherit. Metab. Dis., 33 Suppl 3, S187-90. doi:10.1007/s10545-010-9069-7
F.1499
Alaei, M., Asadzadeh-Totonchi, G., Gachkar, L., & Farivar, S. (Sep 2011). Family social status and dietary adherence of patients with phenylketonuria. Iran J Pediatr, 21(3):379-84.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/23056817
F.1320
Albersen, M., Bonthuis, M., de Roos, N.M., van den Hurk, D.A., Carbasius Weber, E., Hendriks, M.M., de Sain-van der Velden, M.G., de Koning, T.J., & Visser, G. (Dec 2010). Whole body composition analysis by the BodPod air-displacement plethysmography method in children with phenylketonuria shows a higher body fat percentage. J. Inherit. Metab. Dis., 33 Suppl 3, S283-8. doi:10.1007/s10545-010-9149-8
F.1475
Alves, M.R., Starling, A.L., Kanufre, V.C., Soares, R.D., Norton, R.d.e. .C., Aguiar, M.J., & Januario, J.N. (2012 Sep-Oct). Selenium intake and nutritional status of children with phenylketonuria in Minas Gerais, Brazil. J Pediatr (Rio J), 88, 396-400. doi:doi:10.2223/JPED.2217
F.2405
Ambroszkiewicz, J., Gajewska, J., & Laskowska-Klita, T. (Mar 2004). A study of bone turnover markers in prepubertal children with phenylketonuria. Eur. J. Pediatr., 163, 177-8. doi:10.1007/s00431-003-1394-5
F.2626
American College of Medical Genetics and Genomics Therapeutics Committee, Vockley, J., Andersson, H.C., Antshel, K.M., Braverman, N.E., Burton, B.K., Frazier, D.M., Mitchell, J., Smith, W.E., Thompson, B.H., & Berry, S.A. (Feb 2014). Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet. Med., 16, 188-200. doi:10.1038/gim.2013.157
F.905
Anastasoaie, V., Kurzius, L., Forbes, P., & Waisbren, S. (2008 Sep-Oct). Stability of blood phenylalanine levels and IQ in children with phenylketonuria. Mol. Genet. Metab., 95, 17-20. doi:10.1016/j.ymgme.2008.06.014
F.2205
Anderson, P.J., Wood, S.J., Francis, D.E., Coleman, L., Warwick, L., Casanelia, S., Anderson, V.A., & Boneh, A. (Apr 2004). Neuropsychological functioning in children with early-treated phenylketonuria: impact of white matter abnormalities. Dev Med Child Neurol, 46(4):230-8.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/15077700
F.1473
Angelino, A.F., Bone, A., & Kuehl, A.K. (2012 Nov-Dec). A neuropsychiatric perspective of phenylketonuria II: needs assessment for a psychiatric presence. Psychosomatics, 53, 541-9. doi:10.1016/j.psym.2012.04.011
F.2243
Antshel, K.M., & Waisbren, S.E. (Dec 2003). Developmental timing of exposure to elevated levels of phenylalanine is associated with ADHD symptom expression. J Abnorm Child Psychol, 31(6):565-74.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/14658738
F.2204
Antshel, K.M., Brewster, S., & Waisbren, S.E. (Mar 2004). Child and parent attributions in chronic pediatric conditions: phenylketonuria (PKU) as an exemplar. J Child Psychol Psychiatry, 45(3):622-30.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/15055380
F.2445
Bachmann, C. (Feb 2008). Interpretation of plasma amino acids in the follow-up of patients: the impact of compartmentation. J. Inherit. Metab. Dis., 31, 7-20. doi:10.1007/s10545-007-0772-y
F.1209
Ballhausen, D., Egli, D., Bickle-Graz, M., Bianchi, N., & Bonafé, L. (Sep 2011). Born at 27 weeks of gestation with classical PKU: challenges of dietetic management in a very preterm infant. Pediatr Rep, 3, e26. doi:10.4081/pr.2011.e26
F.1314
Barretto, J.R., Silva, L.R., Leite, M.E., Boa-Sorte, N., Pimentel, H., Purificação, A.C., Carvalho, G., Fontes, M.I., & Amorim, T. (Mar 2008). Poor zinc and selenium status in phenylketonuric children and adolescents in Brazil. Nutr Res, 28, 208-11. doi:10.1016/j.nutres.2007.12.009
F.1348
Beblo, S., Reinhardt, H., Demmelmair, H., Muntau, A.C., & Koletzko, B. (May 2007). Effect of fish oil supplementation on fatty acid status, coordination, and fine motor skills in children with phenylketonuria. J. Pediatr., 150, 479-84. doi:10.1016/j.jpeds.2006.12.011
F.1415
Berry, S.A., Brown, C., Grant, M., Greene, C.L., Jurecki, E., Koch, J., Moseley, K., Suter, R., van Calcar, S.C., Wiles, J., & Cederbaum, S. (Aug 2013). Newborn screening 50 years later: access issues faced by adults with PKU. Genet. Med., 15, 591-9. doi:10.1038/gim.2013.10
F.1236
Bhat, M., Haase, C., & Lee, P.J. (2005). Social outcome in treated individuals with inherited metabolic disorders: UK study. J. Inherit. Metab. Dis., 28, 825-30. doi:10.1007/s10545-005-0159-x
F.2555
Bik-Multanowski, M., Didycz, B., Mozrzymas, R., Nowacka, M., Kaluzny, L., Cichy, W., Schneiberg, B., Amilkiewicz, J., Bilar, A., Gizewska, M., Lange, A., Starostecka, E., Chrobot, A., Wojcicka-Bartlomiejczyk, B.I., & Milanowski, A. (Dec 2008). Quality of life in noncompliant adults with phenylketonuria after resumption of the diet. J. Inherit. Metab. Dis., 31 Suppl 2, S415-8. doi:10.1007/s10545-008-0978-7
F.1429
Blau, N. (Sep 2013). Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias. Expert Opin Drug Metab Toxicol, 9, 1207-18. doi:10.1517/17425255.2013.804064
F.1477
Bone, A., Kuehl, A.K., & Angelino, A.F. (2012 Nov-Dec). A neuropsychiatric perspective of phenylketonuria I: overview of phenylketonuria and its neuropsychiatric sequelae. Psychosomatics, 53, 517-23. doi:10.1016/j.psym.2012.04.010
F.1256
Bosch, A.M., Maurice-Stam, H., Wijburg, F.A., & Grootenhuis, M.A. (Dec 2009). Remarkable differences: the course of life of young adults with galactosaemia and PKU. J. Inherit. Metab. Dis., 32, 706-12. doi:10.1007/s10545-009-1253-2
F.2372
Bosch, A.M., Tybout, W., van Spronsen, F.J., de Valk, H.W., Wijburg, F.A., & Grootenhuis, M.A. (Feb 2007). The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria. J. Inherit. Metab. Dis., 30, 29-34. doi:10.1007/s10545-006-0433-6
F.1230
Bouchlariotou, S., Tsikouras, P., & Maroulis, G. (Oct 2009). Undiagnosed maternal phenylketonuria: own clinical experience and literature review. J. Matern. Fetal. Neonatal. Med., 22, 943-8. doi:10.1080/14767050902994697
F.2302
Brenton, D.P., & Pietz, J. (Oct 2000). Adult care in phenylketonuria and hyperphenylalaninaemia: the relevance of neurological abnormalities. Eur. J. Pediatr., 159 Suppl 2:S114-20.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/11043157
F.1464
Burrage, L.C., McConnell, J., Haesler, R., O'Riordan, M.A., Sutton, V.R., Kerr, D.S., & McCandless, S.E. (Sep 2012). High prevalence of overweight and obesity in females with phenylketonuria. Mol. Genet. Metab., 107, 43-8. doi:10.1016/j.ymgme.2012.07.006
F.899
Burton, B.K., & Leviton, L. (2010 Oct-Nov). Reaching out to the lost generation of adults with early-treated phenylketonuria (PKU). Mol. Genet. Metab., 101, 146-8. doi:10.1016/j.ymgme.2010.06.006
F.1465
Camp, K.M., Lloyd-Puryear, M.A., & Huntington, K.L. (Sep 2012). Nutritional treatment for inborn errors of metabolism: indications, regulations, and availability of medical foods and dietary supplements using phenylketonuria as an example. Mol. Genet. Metab., 107, 3-9. doi:10.1016/j.ymgme.2012.07.005
F.2629
Camp, K.M., Parisi, M.A., Acosta, P.B., Berry, G.T., Bilder, D.A., Blau, N., Bodamer, O.A., Brosco, J.P., Brown, C.S., Burlina, A.B., Burton, B.K., Chang, C.S., Coates, P.M., Cunningham, A.C., Dobrowolski, S.F., Ferguson, J.H., Franklin, T.D., Frazier, D.M., Grange, D.K., Greene, C.L., Groft, S.C., Harding, C.O., Howell, R.R., Huntington, K.L., Hyatt-Knorr, H.D., Jevaji, I.P., Levy, H.L., Lichter-Konecki, U., Lindegren, M.L., Lloyd-Puryear, M.A., Matalon, K., MacDonald, A., McPheeters, M.L., Mitchell, J.J., Mofidi, S., Moseley, K.D., Mueller, C.M., Mulberg, A.E., Nerurkar, L.S., Ogata, B.N., Pariser, A.R., Prasad, S., Pridjian, G., Rasmussen, S.A., Reddy, U.M., Rohr, F.J., Singh, R.H., Sirrs, S.M., Stremer, S.E., Tagle, D.A., Thompson, S.M., Urv, T.K., Utz, J.R., van Spronsen, F., Vockley, J., Waisbren, S.E., Weglicki, L.S., White, D.A., Whitley, C.B., Wilfond, B.S., Yannicelli, S., & Young, J.M. (Jun 2014). Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol. Genet. Metab., 112, 87-122. doi:10.1016/j.ymgme.2014.02.013
F.1433
Cappelletti, S., Cotugno, G., Goffredo, B.M., Nicolò, R., Bernabei, S.M., Caviglia, S., & Di Ciommo, V. (2013 Jul-Aug). Cognitive findings and behavior in children and adolescents with phenylketonuria. J Dev Behav Pediatr, 34, 392-8. doi:10.1097/DBP.0b013e31829a79ef
F.1412
Cerone, R., Andria, G., Giovannini, M., Leuzzi, V., Riva, E., & Burlina, A. (Mar 2013). Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. Adv Ther, 30, 212-28. doi:10.1007/s12325-013-0011-x
F.1244
Channon, S., Mockler, C., & Lee, P. (Sep 2005). Executive functioning and speed of processing in phenylketonuria. Neuropsychology, 19, 679-86. doi:10.1037/0894-4105.19.5.679
F.2502
Colomé, C., Artuch, R., Sierra, C., Brandi, N., Lambruschini, N., Campistol, J., & Vilaseca, M.A. (Aug 2003). Plasma thiols and their determinants in phenylketonuria. Eur J Clin Nutr, 57, 964-8. doi:10.1038/sj.ejcn.1601631
F.2535
Cotugno, G., Nicolò, R., Cappelletti, S., Goffredo, B.M., Dionisi Vici, C., & Di Ciommo, V. (Aug 2011). Adherence to diet and quality of life in patients with phenylketonuria. Acta Paediatr., 100, 1144-9. doi:10.1111/j.1651-2227.2011.02227.x
F.1278
Courtney-Martin, G., Bross, R., Raffi, M., Clarke, J.T., Ball, R.O., & Pencharz, P.B. (Dec 2002). Phenylalanine requirement in children with classical PKU determined by indicator amino acid oxidation. Am. J. Physiol. Endocrinol. Metab., 283, E1249-56. doi:10.1152/ajpendo.0319.2001
G.109
Cunningham, A. (2012, April). PKU Treatment The nuts and bolts for those new to PKU Management. [PowerPoint slides]. Paper presented at the 4th GMDI Conference. New Orleans, Louisiana.
F.1517
Cunningham, A., Bausell, H., Brown, M., Chapman, M., DeFouw, K., Ernst, S., McClure, J., McCune, H., O'Steen, D., Pender, A., Skrabal, J., Wessel, A., Jurecki, E., Shediac, R., Prasad, S., Gillis, J., & Cederbaum, S. (Jul 2012). Recommendations for the use of sapropterin in phenylketonuria. Mol. Genet. Metab., 106, 269-76. doi:10.1016/j.ymgme.2012.04.004
F.2601
Dawson, C., Murphy, E., Maritz, C., Chan, H., Ellerton, C., Carpenter, R.H., & Lachmann, R.H. (Apr 2011). Dietary treatment of phenylketonuria: the effect of phenylalanine on reaction time. J. Inherit. Metab. Dis., 34, 449-54. doi:10.1007/s10545-010-9276-2
F.1196
de Sonneville, L.M., Huijbregts, S.C., van Spronsen, F.J., Verkerk, P.H., Sergeant, J.A., & Licht, R. (2010). Event-related potential correlates of selective processing in early- and continuously-treated children with phenylketonuria: effects of concurrent phenylalanine level and dietary control. Mol. Genet. Metab., 99 Suppl 1, S10-7. doi:10.1016/j.ymgme.2009.10.177
F.1503
Di Ciommo, V., Forcella, E., & Cotugno, G. (Apr 2012). Living with phenylketonuria from the point of view of children, adolescents, and young adults: a qualitative study. J Dev Behav Pediatr, 33, 229-35. doi:10.1097/DBP.0b013e3182460d8a
F.2239
Dobbelaere, D., Michaud, L., Debrabander, A., Vanderbecken, S., Gottrand, F., Turck, D., & Farriaux, J.P. (2003). Evaluation of nutritional status and pathophysiology of growth retardation in patients with phenylketonuria. J. Inherit. Metab. Dis., 26(1):1-11.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12872834
F.2553
Durham-Shearer, S.J., Judd, P.A., Whelan, K., & Thomas, J.E. (Oct 2008). Knowledge, compliance and serum phenylalanine concentrations in adolescents and adults with phenylketonuria and the effect of a patient-focused educational resource. J Hum Nutr Diet, 21(5):474-85.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/18833588
F.2532
Elsas, L.J., Greto, J., & Wierenga, A. (Apr 2011). The effect of blood phenylalanine concentration on Kuvan™ response in phenylketonuria. Mol. Genet. Metab., 102, 407-12. doi:10.1016/j.ymgme.2010.12.003
G.96
Ernst, S., Hartnett, C., Francis, D., Moseley, K., Tonyes, L. (2008, September 18). NICU and PKU.  Message posted to Metabolic Dietician List,  <PNO-METAB-L@LISTSERV.CC.EMORY.EDU>
F.1180
Feillet, F., & Agostoni, C. (Dec 2010). Nutritional issues in treating phenylketonuria. J. Inherit. Metab. Dis., 33, 659-64. doi:10.1007/s10545-010-9043-4
F.2473
Feillet, F., Abadie, V., Berthelot, J., Maurin, N., Ogier, H., Vidailhet, M., Farriaux, J.P., & de Parscau, L. (Sep 2004). Maternal phenylketonuria: the French survey. Eur. J. Pediatr., 163, 540-6. doi:10.1007/s00431-004-1482-1
F.1187
Feillet, F., MacDonald, A., Hartung Perron, D., & Burton, B. (2010). Outcomes beyond phenylalanine: an international perspective. Mol. Genet. Metab., 99 Suppl 1, S79-85. doi:10.1016/j.ymgme.2009.09.015
F.1312
Finkelson, L., Bailey, I., & Waisbren, S.E. (Aug 2001). PKU adults and their return to diet: predicting diet continuation and maintenance. J. Inherit. Metab. Dis., 24(4):515-6.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/11596658
F.2390
Frank, N., Fitzgerald, R., & Legge, M. (2007). Phenylketonuria--the lived experience. N. Z. Med. J., 120(1262):U2728.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/17891216
G.83
Frazier, D., Ueda, K., Francis, D. (2009, November 17).  Breastfeeding and Maternal PKU.  Message posted to Metabolic Dietician List,  <PNO-METAB-L@LISTSERV.CC.EMORY.EDU>
F.1392
Freehauf, C., Van Hove, J.L., Gao, D., Bernstein, L., & Thomas, J.A. (Jan 2013). Impact of geographic access to care on compliance and metabolic control in phenylketonuria. Mol. Genet. Metab., 108, 13-7. doi:10.1016/j.ymgme.2012.09.026
F.2245
Gassió, R., Campistol, J., Vilaseca, M.A., Lambruschini, N., Cambra, F.J., & Fusté, E. (Dec 2003). Do adult patients with phenylketonuria improve their quality of life after introduction/resumption of a phenylalanine-restricted diet?. Acta Paediatr., 92(12):1474-8.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/14971801
F.2334
Gökmen-Ozel, H., Büyüktuncer, Z., Köksal, G., Kalkanoğlu-Sivri, H.S., & Coşkun, T. (2011 Mar-Apr). Home visits in phenylketonuria: a 12-month longitudinal study. Turk. J. Pediatr., 53(2):149-53.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/21853651
F.978
Giovannini, M., Verduci, E., Radaelli, G., Lammardo, A., Minghetti, D., Cagnoli, G., Salvatici, E., & Riva, E. (2011 Jan-Feb). Long-chain polyunsaturated fatty acids profile in plasma phospholipids of hyperphenylalaninemic children on unrestricted diet. Prostaglandins Leukot. Essent. Fatty Acids, 84, 39-42. doi:10.1016/j.plefa.2010.09.003
F.1254
Gokmen-Ozel, H., MacDonald, A., Daly, A., Hall, K., Ryder, L., & Chakrapani, A. (Oct 2009). Long-term efficacy of 'ready-to-drink' protein substitute in phenylketonuria. J Hum Nutr Diet, 22, 422-7. doi:10.1111/j.1365-277X.2009.00998.x
F.2482
Gregory, C.O., Yu, C., & Singh, R.H. (Nov 2007). Blood phenylalanine monitoring for dietary compliance among patients with phenylketonuria: comparison of methods. Genet. Med., 9, 761-5. doi:10.1097/GIM.0b013e318159a355
F.1316
Hanley, W.B., Lee, A.W., Hanley, A.J., Lehotay, D.C., Austin, V.J., Schoonheyt, W.E., Platt, B.A., & Clarke, J.T. (Apr 2000). "Hypotyrosinemia" in phenylketonuria. Mol. Genet. Metab., 69, 286-94. doi:10.1006/mgme.2000.2985
F.1421
Heintz, C., Cotton, R.G., & Blau, N. (Jul 2013). Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria. Hum. Mutat., 34, 927-36. doi:10.1002/humu.22320
F.1234
Hoeksma, M., Van Rijn, M., Verkerk, P.H., Bosch, A.M., Mulder, M.F., de Klerk, J.B., de Koning, T.J., Rubio-Gozalbo, E., de Vries, M., Sauer, P.J., & van Spronsen, F.J. (2005). The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria. J. Inherit. Metab. Dis., 28, 845-54. doi:10.1007/s10545-005-0122-x
F.1329
Huemer, M., Födinger, M., Bodamer, O.A., Mühl, A., Herle, M., Weigmann, C., Ulmer, H., Stöckler-Ipsiroglu, S., & Möslinger, D. (May 2008). Total homocysteine, B-vitamins and genetic polymorphisms in patients with classical phenylketonuria. Mol. Genet. Metab., 94, 46-51. doi:10.1016/j.ymgme.2007.12.001
F.1268
Huijbregts, S.C., de Sonneville, L.M., Licht, R., van Spronsen, F.J., & Sergeant, J.A. (Oct 2002). Short-term dietary interventions in children and adolescents with treated phenylketonuria: effects on neuropsychological outcome of a well-controlled population. J. Inherit. Metab. Dis., 25(6):419-30.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12555935
F.2195
Illsinger, S., Lücke, T., Meyer, U., Vaske, B., & Das, A.M. (Feb 2005). Branched chain amino acids as a parameter for catabolism in treated phenylketonuria. Amino Acids, 28, 45-50. doi:10.1007/s00726-004-0150-0
F.2583
Ipsiroglu, O.S., Herle, M., Spoula, E., Möslinger, D., Wimmer, B., Burgard, P., Bode, H., & Stöckler-Ipsiroglu, S. (Aug 2005). Transcultural pediatrics: compliance and outcome of phenylketonuria patients from families with an immigration background. Wien. Klin. Wochenschr., 117, 541-7. doi:10.1007/s00508-005-0327-x
G.112
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