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 |
J. Cohen-Pfeffer (personal communication, October 29, 2013). |
F.907 |
Kanufre, V.C., Starling, A.L., Leão, E., Aguiar, M.J., Santos, J.S., Soares, R.D., & Silveira, A.M. (2007 Sep-Oct). Breastfeeding in the treatment of children with phenylketonuria. J Pediatr (Rio J), 83, 447-52. doi:10.2223/JPED.1672 |
F.1425 |
Keil, S., Anjema, K., van Spronsen, F.J., Lambruschini, N., Burlina, A., Bélanger-Quintana, A., Couce, M.L., Feillet, F., Cerone, R., Lotz-Havla, A.S., Muntau, A.C., Bosch, A.M., Meli, C.A., Billette de Villemeur, T., Kern, I., Riva, E., Giovannini, M., Damaj, L., Leuzzi, V., & Blau, N. (Jun 2013). Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study. Pediatrics, 131, e1881-8. doi:10.1542/peds.2012-3291 |
F.927 |
Kieckhefer, G.M., & Trahms, C.M. (2000 Jul-Aug). Supporting development of children with chronic conditions: from compliance toward shared management. Pediatr Nurs, 26(4):354-63. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12026469 |
F.1237 |
Koch, R., Moseley, K., & Guttler, F. (Dec 2005). Tetrahydrobiopterin and maternal PKU. Mol. Genet. Metab., 86 Suppl 1, S139-41. doi:10.1016/j.ymgme.2005.09.004 |
F.2236 |
Koch, R., Moseley, K.D., Yano, S., Nelson, M., & Moats, R.A. (Jun 2003). Large neutral amino acid therapy and phenylketonuria: a promising approach to treatment. Mol. Genet. Metab., 79(2):110-3. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12809641 |
F.1189 |
Koch, R., Trefz, F., & Waisbren, S. (2010). Psychosocial issues and outcomes in maternal PKU. Mol. Genet. Metab., 99 Suppl 1, S68-74. doi:10.1016/j.ymgme.2009.10.014 |
F.2336 |
Koletzko, B., Beblo, S., Demmelmair, H., & Hanebutt, F.L. (Mar 2009). Omega-3 LC-PUFA supply and neurological outcomes in children with phenylketonuria (PKU). J. Pediatr. Gastroenterol. Nutr., 48 Suppl 1, S2-7. doi:10.1097/MPG.0b013e3181977399 |
F.904 |
Koletzko, B., Beblo, S., Demmelmair, H., Müller-Felber, W., & Hanebutt, F.L. (2009 Aug-Sep). Does dietary DHA improve neural function in children? Observations in phenylketonuria. Prostaglandins Leukot. Essent. Fatty Acids, 81, 159-64. doi:10.1016/j.plefa.2009.06.006 |
F.1007 |
Koletzko, B., Sauerwald, T., Demmelmair, H., Herzog, M., von Schenck, U., Böhles, H., Wendel, U., & Seidel, J. (Jun 2007). Dietary long-chain polyunsaturated fatty acid supplementation in infants with phenylketonuria: a randomized controlled trial. J. Inherit. Metab. Dis., 30, 326-32. doi:10.1007/s10545-007-0491-4 |
F.1210 |
Koura, H.M., Abdallah Ismail, N., Kamel, A.F., Ahmed, A.M., Saad-Hussein, A., & Effat, L.K. (Jun 2011). A long-term study of bone mineral density in patients with phenylketonuria under diet therapy. Arch Med Sci, 7, 493-500. doi:10.5114/aoms.2011.23417 |
F.2566 |
Lambruschini, N., Pérez-Dueñas, B., Vilaseca, M.A., Mas, A., Artuch, R., Gassió, R., Gómez, L., Gutiérrez, A., & Campistol, J. (Dec 2005). Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy. Mol. Genet. Metab., 86 Suppl 1, S54-60. doi:10.1016/j.ymgme.2005.05.014 |
F.1300 |
Landolt, M.A., Nuoffer, J.M., Steinmann, B., & Superti-Furga, A. (May 2002). Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal. J. Pediatr., 140, 516-21. doi:10.1067/mpd.2002.123663 |
F.2528 |
Lee, P.J., Lilburn, M., & Baudin, J. (Dec 2003). Maternal phenylketonuria: experiences from the United Kingdom. Pediatrics, 112(6 Pt 2):1553-6. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/14654664 |
F.2468 |
Levy, H.L., Waisbren, S.E., Güttler, F., Hanley, W.B., Matalon, R., Rouse, B., Trefz, F.K., de la Cruz, F., Azen, C.G., & Koch, R. (Dec 2003). Pregnancy experiences in the woman with mild hyperphenylalaninemia. Pediatrics, 112(6 Pt 2):1548-52. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/14654663 |
F.2176 |
Lindegren, M.L., Krishnaswami, S., Fonnesbeck, C., Reimschisel, T., Fisher, J., Jackson, K., Shields, T., Sathe, N.A., & McPheeters, M.L., (February 2012). Adjuvant Treatment for Phenylketonuria (PKU). AHRQ Comparative Effectiveness Reviews (Report No.: 12-EHC035-EF). Rockville (MD): Agency for Healthcare Research and Quality (US). Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/22457884 |
F.1287 |
Lucock, M., Yates, Z., Hall, K., Leeming, R., Rylance, G., MacDonald, A., & Green, A. (Aug 2002). The impact of phenylketonuria on folate metabolism. Mol. Genet. Metab., 76(4):305-12. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12208135 |
F.2357 |
Macdonald, A., Davies, P., Daly, A., Hopkins, V., Hall, S.K., Asplin, D., Hendriksz, C., & Chakrapani, A. (Aug 2008). Does maternal knowledge and parent education affect blood phenylalanine control in phenylketonuria?. J Hum Nutr Diet, 21, 351-8. doi:10.1111/j.1365-277X.2008.00891.x |
F.1008 |
MacDonald, A., Evans, S., Cochrane, B., & Wildgoose, J. (Apr 2012). Weaning infants with phenylketonuria: a review. J Hum Nutr Diet, 25, 103-10. doi:10.1111/j.1365-277X.2011.01199.x |
F.1317 |
MacDonald, A., Lee, P., Davies, P., Daly, A., Lilburn, M., Gokmen Ozel, H., Preece, M.A., Hendriksz, C., & Chakrapani, A. (Dec 2008). Long-term compliance with a novel vitamin and mineral supplement in older people with PKU. J. Inherit. Metab. Dis., 31, 718-23. doi:10.1007/s10545-008-0960-4 |
F.2460 |
MacDonald, A., Lilburn, M., Davies, P., Evans, S., Daly, A., Hall, S.K., Hendriksz, C., Chakrapani, A., & Lee, P. (Aug 2006). 'Ready to drink' protein substitute is easier is for people with phenylketonuria. J. Inherit. Metab. Dis., 29, 526-31. doi:10.1007/s10545-006-0234-y |
F.2403 |
MacDonald, A., Manji, N., Evans, S., Davies, P., Daly, A., Hendriksz, C., & Chakrapani, A. (Oct 2006). Home delivery of dietary products in inherited metabolic disorders reduces prescription and dispensing errors. J Hum Nutr Diet, 19, 375-81. doi:10.1111/j.1365-277X.2006.00717.x |
F.1172 |
MacDonald, A., Rocha, J.C., van Rijn, M., & Feillet, F. (2011). Nutrition in phenylketonuria. Mol. Genet. Metab., 104 Suppl, S10-8. doi:10.1016/j.ymgme.2011.08.023 |
F.2241 |
MacDonald, A., Rylance, G., Davies, P., Asplin, D., Hall, S.K., & Booth, I.W. (2003). Administration of protein substitute and quality of control in phenylketonuria: a randomized study. J. Inherit. Metab. Dis., 26(4):319-26. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12971419 |
F.1478 |
MaCdonald, A., van Rijn, M., Feillet, F., Lund, A.M., Bernstein, L., Bosch, A.M., Gizewska, M., & van Spronsen, F.J. (2012). Adherence issues in inherited metabolic disorders treated by low natural protein diets. Ann. Nutr. Metab., 61, 289-95. doi:10.1159/000342256 |
F.1168 |
MacLeod, E.L., Clayton, M.K., van Calcar, S.C., & Ney, D.M. (Aug 2010). Breakfast with glycomacropeptide compared with amino acids suppresses plasma ghrelin levels in individuals with phenylketonuria. Mol. Genet. Metab., 100, 303-8. doi:10.1016/j.ymgme.2010.04.003 |
F.1291 |
Magee, A.C., Ryan, K., Moore, A., & Trimble, E.R. (Sep 2002). Follow up of fetal outcome in cases of maternal phenylketonuria in Northern Ireland. Arch. Dis. Child. Fetal Neonatal Ed., 87(2):F141-3. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12193524 |
F.2560 |
Maillot, F., Cook, P., Lilburn, M., & Lee, P.J. (Apr 2007). A practical approach to maternal phenylketonuria management. J. Inherit. Metab. Dis., 30, 198-201. doi:10.1007/s10545-007-0436-y |
F.1200 |
Mazur, A., Jarochowicz, S., Sykut-Cegielska, J., Gradowska, W., Kwolek, A., & Ołtarzewski, M. (2010). Evaluation of somatic development in adult patients with previously undiagnosed and/or untreated phenylketonuria. Med Princ Pract, 19, 46-50. doi:10.1159/000252834 |
F.2533 |
Mütze, U., Roth, A., Weigel, J.F., Beblo, S., Baerwald, C.G., Bührdel, P., & Kiess, W. (Jun 2011). Transition of young adults with phenylketonuria from pediatric to adult care. J. Inherit. Metab. Dis., 34, 701-9. doi:10.1007/s10545-011-9284-x |
F.910 |
McBurnie, M.A., Kronmal, R.A., Schuett, V.E., Koch, R., & Azeng, C.G. (1991 Jul-Aug). Physical growth of children treated for phenylketonuria. Ann. Hum. Biol., 18(4):357-68. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/1750755 |
F.925 |
Meli, C., & Bianca, S. (2002 Dec 21-28). Dietary control of phenylketonuria. Lancet, 360, 2075-6. doi:10.1016/S0140-6736(02)11958-1 |
F.1525 |
Mendes, A.B., Martins, F.F., Cruz, W.M., da Silva, L.E., Abadesso, C.B., & Boaventura, G.T. (May 2012). Bone development in children and adolescents with PKU. J. Inherit. Metab. Dis., 35, 425-30. doi:10.1007/s10545-011-9412-7 |
F.2255 |
Merrick, J., Aspler, S., & Schwarz, G. (Jun 2001). Should adults with phenylketonuria have diet treatment?. Ment Retard, 39, 215-7. doi:10.1352/0047-6765(2001)039<0215:SAWPHD>2.0.CO;2 |
F.1403 |
Mirás, A., Bóveda, M.D., Leis, M.R., Mera, A., Aldámiz-Echevarría, L., Fernández-Lorenzo, J.R., Fraga, J.M., & Couce, M.L. (Mar 2013). Risk factors for developing mineral bone disease in phenylketonuric patients. Mol. Genet. Metab., 108, 149-54. doi:10.1016/j.ymgme.2012.12.008 |
F.2503 |
Moats, R.A., Moseley, K.D., Koch, R., & Nelson, M. (Dec 2003). Brain phenylalanine concentrations in phenylketonuria: research and treatment of adults. Pediatrics, 112(6 Pt 2):1575-9. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/14654668 |
F.1304 |
Moseley, K., Koch, R., & Moser, A.B. (Feb 2002). Lipid status and long-chain polyunsaturated fatty acid concentrations in adults and adolescents with phenylketonuria on phenylalanine-restricted diet. J. Inherit. Metab. Dis., 25(1):56-64. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/11999981 |
G.86 |
Moseley, K., Tonyes, L. (2009, September 25). LNAA therapy (side effects). Message posted to Metabolic Dietician List, <PNO-METAB-L@LISTSERV.CC.EMORY.EDU> |
F.677 |
Moyle, J.J., Fox, A.M., Bynevelt, M., Arthur, M., & Burnett, J.R. (May 2007). A neuropsychological profile of off-diet adults with phenylketonuria. J Clin Exp Neuropsychol, 29, 436-41. doi:10.1080/13803390600745829 |
F.2365 |
Murphy, G.H., Johnson, S.M., Amos, A., Weetch, E., Hoskin, R., Fitzgerald, B., Lilburn, M., Robertson, L., & Lee, P. (Dec 2008). Adults with untreated phenylketonuria: out of sight, out of mind. Br J Psychiatry, 193, 501-2. doi:10.1192/bjp.bp.107.045021 |
F.2333 |
Nagasaka, H., Tsukahara, H., Takatani, T., Sanayama, Y., Takayanagi, M., Ohura, T., Sakamoto, O., Ito, T., Wada, M., Yoshino, M., Ohtake, A., Yorifuji, T., Hirayama, S., Miida, T., Fujimoto, H., Mochizuki, H., Hattori, T., & Okano, Y. (Nov 2011). Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screening. J. Bone Miner. Metab., 29, 737-43. doi:10.1007/s00774-011-0276-6 |
F.1138 |
Ney, D.M., Gleason, S.T., van Calcar, S.C., MacLeod, E.L., Nelson, K.L., Etzel, M.R., Rice, G.M., & Wolff, J.A. (Feb 2009). Nutritional management of PKU with glycomacropeptide from cheese whey. J. Inherit. Metab. Dis., 32, 32-9. doi:10.1007/s10545-008-0952-4 |
F.2585 |
Ng, T.W., Rae, A., Wright, H., Gurry, D., & Wray, J. (Jul 2003). Maternal phenylketonuria in Western Australia: pregnancy outcomes and developmental outcomes in offspring. J Paediatr Child Health, 39(5):358-63. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12887666 |
F.2348 |
Olsson, G.M., Mårild, S., Alm, J., Brodin, U., Rydelius, P.A., & Marcus, C. (2008). The Adolescent Adjustment Profile (AAP) in comparisons of patients with obesity, phenylketonuria or neurobehavioural disorders. Nord J Psychiatry, 62, 66-76. doi:10.1080/08039480801979586 |
F.2561 |
Olsson, G.M., Montgomery, S.M., & Alm, J. (Oct 2007). Family conditions and dietary control in phenylketonuria. J. Inherit. Metab. Dis., 30, 708-15. doi:10.1007/s10545-007-0493-2 |
F.2518 |
Owada, M., Aoki, K., & Kitagawa, T. (Nov 2000). Taste preferences and feeding behaviour in children with phenylketonuria on a semisynthetic diet. Eur. J. Pediatr., 159(11):846-50. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/11079199 |
F.2548 |
Ozel, H.G., Kucukkasap, T., Koksal, G., Sivri, H.S., Dursun, A., Tokatli, A., & Coskun, T. (Dec 2008). Does maternal knowledge impact blood phenylalanine concentration in Turkish children with phenylketonuria?. J. Inherit. Metab. Dis., 31 Suppl 2, S213-7. doi:10.1007/s10545-008-0775-3 |
G.90 |
Payne, N. (2009, February 9). PKU and gastric reduction. Message posted to Metabolic Dietician List, <PNO-METAB-L@LISTSERV.CC.EMORY.EDU> |
F.2447 |
Porta, F., Spada, M., Lala, R., & Mussa, A. (Jul 2008). Phalangeal quantitative ultrasound in children with phenylketonuria: a pilot study. Ultrasound Med Biol, 34, 1049-52. doi:10.1016/j.ultrasmedbio.2007.12.013 |
F.1197 |
Poustie, V.J., & Wildgoose, J. (2010). Dietary interventions for phenylketonuria. Cochrane Database Syst Rev. doi:10.1002/14651858.CD001304.pub2 |
F.1527 |
Prick, B.W., Hop, W.C., & Duvekot, J.J. (Feb 2012). Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies. Am. J. Clin. Nutr., 95, 374-82. doi:10.3945/ajcn.110.009456 |
F.1521 |
Quirk, M.E., Dobrowolski, S.F., Nelson, B.E., Coffee, B., & Singh, R.H. (Sep 2012). Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria. Mol. Genet. Metab., 107, 31-6. doi:10.1016/j.ymgme.2012.07.008 |
F.1146 |
Roato, I., Porta, F., Mussa, A., D'Amico, L., Fiore, L., Garelli, D., Spada, M., & Ferracini, R. (2010). Bone impairment in phenylketonuria is characterized by circulating osteoclast precursors and activated T cell increase. PLoS ONE, 5, e14167. doi:10.1371/journal.pone.0014167 |
F.2280 |
Robinson, M., White, F.J., Cleary, M.A., Wraith, E., Lam, W.K., & Walter, J.H. (Apr 2000). Increased risk of vitamin B12 deficiency in patients with phenylketonuria on an unrestricted or relaxed diet. J. Pediatr., 136(4):545-7. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10753257 |
F.2441 |
Rocha, J.C., & Martel, F. (Aug 2009). Large neutral amino acids supplementation in phenylketonuric patients. J. Inherit. Metab. Dis., 32, 472-80. doi:10.1007/s10545-009-1132-x |
F.1476 |
Rocha, J.C., van Spronsen, F.J., Almeida, M.F., Soares, G., Quelhas, D., Ramos, E., Guimarães, J.T., & Borges, N. (Dec 2012). Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome. Mol. Genet. Metab., 107, 659-63. doi:10.1016/j.ymgme.2012.10.006 |
F.1506 |
Rohde, C., Mütze, U., Weigel, J.F., Ceglarek, U., Thiery, J., Kiess, W., & Beblo, S. (May 2012). Unrestricted consumption of fruits and vegetables in phenylketonuria: no major impact on metabolic control. Eur J Clin Nutr, 66, 633-8. doi:10.1038/ejcn.2011.205 |
G.88 |
Rohr, F. et al. (2009, September 22). Maternal PKU. Message posted to Metabolic Dietician List, <PNO-METAB-L@LISTSERV.CC.EMORY.EDU>
|
G.102 |
Ross Products Division (2001) DISORDERS OF AMINO ACID METABOLISM Aromatic Amino Acids.PROTOCOL 1 Phenylketonuria (PKU) Nutrition Support of Infants, Children, and Adults With PHENEX™-1 and PHENEX™-2 Amino Acid-Modified Medical Foods. In The Ross Metabolic Formula System Nutrition Support Protocols, 4th Edition (pp.1-32). Columbus, OH. |
F.1241 |
Rutherford, P., & Poustie, V.J. (2005). Protein substitute for children and adults with phenylketonuria. Cochrane Database Syst Rev. doi:10.1002/14651858.CD004731.pub2 |
F.1512 |
Salvarinova-Zivkovic, R., Hartnett, C., Sinclair, G., Dix, D., Horvath, G., Lillquist, Y., & Stockler-Ipsiroglu, S. (Apr 2012). The use of parenteral nutrition for the management of PKU patient undergoing chemotherapy for lymphoma: a case report. Mol. Genet. Metab., 105, 571-4. doi:10.1016/j.ymgme.2012.01.007 |
F.2451 |
Schindeler, S., Ghosh-Jerath, S., Thompson, S., Rocca, A., Joy, P., Kemp, A., Rae, C., Green, K., Wilcken, B., & Christodoulou, J. (May 2007). The effects of large neutral amino acid supplements in PKU: an MRS and neuropsychological study. Mol. Genet. Metab., 91, 48-54. doi:10.1016/j.ymgme.2007.02.002 |
F.1283 |
Schulpis, K.H., Karikas, G.A., & Papakonstantinou, E. (2002). Homocysteine and other vascular risk factors in patients with phenylketonuria on a diet. Acta Paediatr., 91(8):905-9. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12222713 |
F.1171 |
Sharman, R., Sullivan, K., Young, R., & McGill, J. (2010). A preliminary investigation of the role of the phenylalanine:tyrosine ratio in children with early and continuously treated phenylketonuria: toward identification of "safe" levels. Dev Neuropsychol, 35, 57-65. doi:10.1080/87565640903325725 |
F.2605 |
Sharman, R., Sullivan, K., Young, R., & McGill, J. (Feb 2009). Biochemical markers associated with executive function in adolescents with early and continuously treated phenylketonuria. Clin. Genet., 75, 169-74. doi:10.1111/j.1399-0004.2008.01101.x |
F.2522 |
Sievers, E., Arpe, T., Schleyerbach, U., & Schaub, J. (Jul 2000). Molybdenum supplementation in phenylketonuria diets: adequate in early infancy?. J. Pediatr. Gastroenterol. Nutr., 31(1):57-62. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10896072 |
F.2448 |
Simon, E., Schwarz, M., Roos, J., Dragano, N., Geraedts, M., Siegrist, J., Kamp, G., & Wendel, U. (2008). Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU). Health Qual Life Outcomes, 6, 25. doi:10.1186/1477-7525-6-25 |
F.673 |
Singh, R.H., & Quirk, M.E. (Dec 2011). Using change in plasma phenylalanine concentrations and ability to liberalize diet to classify responsiveness to tetrahydrobiopterin therapy in patients with phenylketonuria. Mol. Genet. Metab., 104, 485-91. doi:10.1016/j.ymgme.2011.09.009 |
F.1152 |
Singh, R.H., Quirk, M.E., Douglas, T.D., & Brauchla, M.C. (Dec 2010). BH(4) therapy impacts the nutrition status and intake in children with phenylketonuria: 2-year follow-up. J. Inherit. Metab. Dis., 33, 689-95. doi:10.1007/s10545-010-9224-1 |
F.2627 |
Singh, R.H., Rohr, F., Frazier, D., Cunningham, A., Mofidi, S., Ogata, B., Splett, P.L., Moseley, K., Huntington, K., Acosta, P.B., Vockley, J., & Van Calcar, S.C. (Feb 2014). Recommendations for the nutrition management of phenylalanine hydroxylase deficiency. Genet. Med., 16, 121-31. doi:10.1038/gim.2013.179 |
G.85 |
Skrabal, J., Saavedra, H., Payne, N. (2009, October 1). PKU and diabetes. Message posted to Metabolic Dietician List, <PNO-METAB-L@LISTSERV.CC.EMORY.EDU>
|
F.1479 |
Somaraju, U.R., & Merrin, M. (2012). Sapropterin dihydrochloride for phenylketonuria. Cochrane Database Syst Rev, 12, CD008005. doi:10.1002/14651858.CD008005.pub3 |
G.87 |
Sprietsma, L. et al. (2009, October 2). Essential fatty acid supplementation in PKU. Message posted to Metabolic Dietician List, <PNO-METAB-L@LISTSERV.CC.EMORY.EDU> |
F.1513 |
Stockler, S., Moeslinger, D., Herle, M., Wimmer, B., & Ipsiroglu, O.S. (Nov 2012). Cultural aspects in the management of inborn errors of metabolism. J. Inherit. Metab. Dis., 35, 1147-52. doi:10.1007/s10545-012-9455-4 |
F.2327 |
ten Hoedt, A.E., de Sonneville, L.M., Francois, B., ter Horst, N.M., Janssen, M.C., Rubio-Gozalbo, M.E., Wijburg, F.A., Hollak, C.E., & Bosch, A.M. (Feb 2011). High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial. J. Inherit. Metab. Dis., 34, 165-71. doi:10.1007/s10545-010-9253-9 |
F.2539 |
Ten Hoedt, A.E., Hollak, C.E., Boelen, C.C., van der Herberg-van de Wetering, N.A., Ter Horst, N.M., Jonkers, C.F., Wijburg, F.A., & Bosch, A.M. (2011). "MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial. Orphanet J Rare Dis, 6, 48. doi:10.1186/1750-1172-6-48 |
G.106 |
Thompson, S. (2012, April). Long term compliance: who holds the key? [PowerPoint slides]. Paper presented at the 4th GMDI Conference. New Orleans, Louisiana. |
F.1176 |
Trefz, F.K., Scheible, D., & Frauendienst-Egger, G. (Dec 2010). Long-term follow-up of patients with phenylketonuria receiving tetrahydrobiopterin treatment. J. Inherit. Metab. Dis., 33 Suppl 3, S163-9. doi:10.1007/s10545-010-9058-x |
F.1520 |
van Calcar, S.C., & Ney, D.M. (Aug 2012). Food products made with glycomacropeptide, a low-phenylalanine whey protein, provide a new alternative to amino Acid-based medical foods for nutrition management of phenylketonuria. J Acad Nutr Diet, 112, 1201-10. doi:10.1016/j.jand.2012.05.004 |
F.679 |
van Rijn, M., Hoeksma, M., Sauer, P.J., Modderman, P., Reijngoud, D.J., & van Spronsen, F.J. (2011). Diurnal variations in blood phenylalanine of PKU infants under different feeding regimes. Mol. Genet. Metab., 104 Suppl, S68-72. doi:10.1016/j.ymgme.2011.08.010 |
F.1129 |
van Spronsen, F.J., Ahring, K.K., & Gizewska, M. (Feb 2009). PKU-what is daily practice in various centres in Europe? Data from a questionnaire by the scientific advisory committee of the European Society of Phenylketonuria and Allied Disorders. J. Inherit. Metab. Dis., 32, 58-64. doi:10.1007/s10545-008-0966-y |
F.1149 |
van Spronsen, F.J., de Groot, M.J., Hoeksma, M., Reijngoud, D.J., & van Rijn, M. (Dec 2010). Large neutral amino acids in the treatment of PKU: from theory to practice. J. Inherit. Metab. Dis., 33, 671-6. doi:10.1007/s10545-010-9216-1 |
F.1225 |
van Spronsen, F.J., van Rijn, M., Bekhof, J., Koch, R., & Smit, P.G. (Feb 2001). Phenylketonuria: tyrosine supplementation in phenylalanine-restricted diets. Am. J. Clin. Nutr., 73(2):153-7. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/11157309 |
F.2515 |
Waisbren, S.E., Hanley, W., Levy, H.L., Shifrin, H., Allred, E., Azen, C., Chang, P.N., Cipcic-Schmidt, S., de la Cruz, F., Hall, R., Matalon, R., Nanson, J., Rouse, B., Trefz, F., & Koch, R. (Feb 2000). Outcome at age 4 years in offspring of women with maternal phenylketonuria: the Maternal PKU Collaborative Study. JAMA, 283(6):756-62. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10683054 |
F.1297 |
Walter, J.H., White, F.J., Hall, S.K., MacDonald, A., Rylance, G., Boneh, A., Francis, D.E., Shortland, G.J., Schmidt, M., & Vail, A. (Jul 2002). How practical are recommendations for dietary control in phenylketonuria?. Lancet, 360(9326):55-7. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12114043 |
F.1159 |
Webster, D., & Wildgoose, J. (2010). Tyrosine supplementation for phenylketonuria. Cochrane Database Syst Rev. doi:10.1002/14651858.CD001507.pub2 |
F.1431 |
Webster, D., & Wildgoose, J. (2013). Tyrosine supplementation for phenylketonuria. Cochrane Database Syst Rev. doi:10.1002/14651858.CD001507.pub3 |
F.2400 |
Weetch, E., & Macdonald, A. (Jun 2006). The determination of phenylalanine content of foods suitable for phenylketonuria. J Hum Nutr Diet, 19, 229-36. doi:10.1111/j.1365-277X.2006.00696.x |
F.2525 |
Weglage, J., Pietsch, M., Feldmann, R., Koch, H.G., Zschocke, J., Hoffmann, G., Muntau-Heger, A., Denecke, J., Guldberg, P., Güttler, F., Möller, H., Wendel, U., Ullrich, K., & Harms, E. (Apr 2001). Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia. Pediatr. Res., 49, 532-6. doi:10.1203/00006450-200104000-00015 |
F.1408 |
Wiig, I., Motzfeldt, K., Løken, E.B., & Kase, B.F. (2013). Nutritional Consequences of Adhering to a Low Phenylalanine Diet for Late-Treated Adults with PKU : Low Phe Diet for Adults with PKU. JIMD Rep, 7, 109-16. doi:10.1007/8904_2012_157 |
G.105 |
Yanicelli, S. van Rijn, M. (2010, April). Protein Requirements in Metabolic Disorders: Is There An Optimal Amount? [PowerPoint slides]. Paper presented at the 3rd GMDI Conference. Baltimore, Maryland. |
G.91 |
Yannicelli, S. (2005, August 5). Protein requirement in overweight PKU patients. Message posted to Metabolic Dietician List, <PNO-METAB-L@LISTSERV.CC.EMORY.EDU> |
F.2407 |
Yi, S.H., Kable, J.A., Evatt, M.L., & Singh, R.H. (Apr 2011). A cross-sectional study of docosahexaenoic acid status and cognitive outcomes in females of reproductive age with phenylketonuria. J. Inherit. Metab. Dis., 34, 455-63. doi:10.1007/s10545-011-9277-9 |
F.1296 |
Zaffanello, M., Zamboni, G., & Tatò, L. (Jul 2002). Growth parameters in newborns with hyperphenylalaninaemia. Paediatr Perinat Epidemiol, 16(3):274-7. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12123441 |
F.1515 |
Ziesch, B., Weigel, J., Thiele, A., Mütze, U., Rohde, C., Ceglarek, U., Thiery, J., Kiess, W., & Beblo, S. (Nov 2012). Tetrahydrobiopterin (BH4) in PKU: effect on dietary treatment, metabolic control, and quality of life. J. Inherit. Metab. Dis., 35, 983-92. doi:10.1007/s10545-012-9458-1 |
F.1529 |
Zimmermann, M., Jacobs, P., Fingerhut, R., Torresani, T., Thöny, B., Blau, N., Baumgartner, M.R., & Rohrbach, M. (Jul 2012). Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis. Mol. Genet. Metab., 106, 264-8. doi:10.1016/j.ymgme.2012.04.016 |
ID |
Reference |
L.196 |
Basit, S. (2013). Vitamin D in health and disease: a literature review. Br. J. Biomed. Sci., 70(4):161-72. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/24400428 |
L.200 |
Bodley, J.L., Austin, V.J., Hanley, W.B., Clarke, J.T., & Zlotkin, S. (Feb 1993). Low iron stores in infants and children with treated phenylketonuria: a population at risk for iron-deficiency anaemia and associated cognitive deficits. Eur. J. Pediatr., 152(2):140-3. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8444222 |
L.199 |
Dewey, K.G., Beaton, G., Fjeld, C., Lönnerdal, B., & Reeds, P. (Feb 1996). Protein requirements of infants and children. Eur J Clin Nutr, 50 Suppl 1:S119-47; discussion S147-50. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8641256 |
L.201 |
Galli, C., Agostoni, C., Mosconi, C., Riva, E., Salari, P.C., & Giovannini, M. (Oct 1991). Reduced plasma C-20 and C-22 polyunsaturated fatty acids in children with phenylketonuria during dietary intervention. J. Pediatr., 119(4):562-7. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/1919887 |
L.152 |
Heird, W.C. (May 2007). Omega-3 long-chain polyunsaturated fatty acids in older children. J. Pediatr., 150, 457-9. doi:10.1016/j.jpeds.2007.01.030 |
L.193 |
Institute of Medicine (US) and National Research Council (US) Committee to Reexamine IOM Pregnancy Weight Guidelines, Rasmussen, K.M., & Yaktine, A.L., (2009). Weight Gain During Pregnancy: Reexamining the Guidelines. The National Academies Collection: Reports funded by National Institutes of Health. Washington (DC): National Academies Press (US). Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/20669500 |
L.157 |
Koch, R., Hanley, W., Levy, H., Matalon, K., Matalon, R., Rouse, B., Trefz, F., Güttler, F., Azen, C., Platt, L., Waisbren, S., Widaman, K., Ning, J., Friedman, E.G., & de la Cruz, F. (Dec 2003). The Maternal Phenylketonuria International Study: 1984-2002. Pediatrics, 112(6 Pt 2):1523-9. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/14654658 |
L.163 |
Levy, H.L. (Dec 2003). Historical background for the maternal PKU syndrome. Pediatrics, 112(6 Pt 2):1516-8. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/14654656 |
L.192 |
Lindegren, M.L., Krishnaswami, S., Fonnesbeck, C., Reimschisel, T., Fisher, J., Jackson, K., Shields, T., Sathe, N.A., & McPheeters, M.L., (February 2012). Adjuvant Treatment for Phenylketonuria (PKU). AHRQ Comparative Effectiveness Reviews (Report No.: 12-EHC035-EF). Rockville (MD): Agency for Healthcare Research and Quality (US). Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/22457884 |
L.198 |
McHugh, D., Cameron, C.A., Abdenur, J.E., Abdulrahman, M., Adair, O., Al Nuaimi, S.A., Åhlman, H., Allen, J.J., Antonozzi, I., Archer, S., Au, S., Auray-Blais, C., Baker, M., Bamforth, F., Beckmann, K., Pino, G.B., Berberich, S.L., Binard, R., Boemer, F., Bonham, J., Breen, N.N., Bryant, S.C., Caggana, M., Caldwell, S.G., Camilot, M., Campbell, C., Carducci, C., Bryant, S.C., Caggana, M., Caldwell, S.G., Camilot, M., Campbell, C., Carducci, C., Cariappa, R., Carlisle, C., Caruso, U., Cassanello, M., Castilla, A.M., Ramos, D.E., Chakraborty, P., Chandrasekar, R., Ramos, A.C., Cheillan, D., Chien, Y.H., Childs, T.A., Chrastina, P., Sica, Y.C., de Juan, J.A., Colandre, M.E., Espinoza, V.C., Corso, G., Currier, R., Cyr, D., Czuczy, N., D'Apolito, O., Davis, T., de Sain-Van der Velden, M.G., Delgado Pecellin, C., Di Gangi, I.M., Di Stefano, C.M., Dotsikas, Y., Downing, M., Downs, S.M., Dy, B., Dymerski, M., Rueda, I., Elvers, B., Eaton, R., Eckerd, B.M., El Mougy, F., Eroh, S., Espada, M., Evans, C., Fawbush, S., Fijolek, K.F., Fisher, L., Franzson, L., Frazier, D.M., Garcia, L.R., Bermejo, M.S., Gavrilov, D., Gerace, R., Giordano, G., Irazabal, Y.G., Greed, L.C., Grier, R., Grycki, E., Gu, X., Gulamali-Majid, F., Hagar, A.F., Han, L., Hannon, W.H., Haslip, C., Hassan, F.A., He, M., Hietala, A., Himstedt, L., Hoffman, G.L., Hoffman, W., Hoggatt, P., Hopkins, P.V., Hougaard, D.M., Hughes, K., Hunt, P.R., Hwu, W.L., Hynes, J., Ibarra-González, I., Ingham, C.A., Ivanova, M., Jacox, W.B., John, C., Johnson, J.P., Jónsson, J.J., Karg, E., Kasper, D., Klopper, B., Katakouzinos, D., Khneisser, I., Knoll, D., Kobayashi, H., Koneski, R., Kozich, V., Kouapei, R., Kohlmueller, D., Kremensky, I., la Marca, G., Lavochkin, M., Lee, S.Y., Lehotay, D.C., Lemes, A., Lepage, J., Lesko, B., Lewis, B., Lim, C., Linard, S., Lindner, M., Lloyd-Puryear, M.A., Lorey, F., Loukas, Y.L., Luedtke, J., Maffitt, N., Magee, J.F., Manning, A., Manos, S., Marie, S., Hadachi, S.M., Marquardt, G., Martin, S.J., Matern, D., Mayfield Gibson, S.K., Mayne, P., McCallister, T.D., McCann, M., McClure, J., McGill, J.J., McKeever, C.D., McNeilly, B., Morrissey, M.A., Moutsatsou, P., Mulcahy, E.A., Nikoloudis, D., Norgaard-Pedersen, B., Oglesbee, D., Oltarzewski, M., Ombrone, D., Ojodu, J., Papakonstantinou, V., Reoyo, S.P., Park, H.D., Pasquali, M., Pasquini, E., Patel, P., Pass, K.A., Peterson, C., Pettersen, R.D., Pitt, J.J., Poh, S., Pollak, A., Porter, C., Poston, P.A., Price, R.W., Queijo, C., Quesada, J., Randell, E., Ranieri, E., Raymond, K., Reddic, J.E., Reuben, A., Ricciardi, C., Rinaldo, P., Rivera, J.D., Roberts, A., Rocha, H., Roche, G., Greenberg, C.R., Mellado, J.M., Juan-Fita, M.J., Ruiz, C., Ruoppolo, M., Rutledge, S.L., Ryu, E., Saban, C., Sahai, I., García-Blanco, M.I., Santiago-Borrero, P., Schenone, A., Schoos, R., Schweitzer, B., Scott, P., Seashore, M.R., Seeterlin, M.A., Sesser, D.E., Sevier, D.W., Shone, S.M., Sinclair, G., Skrinska, V.A., Stanley, E.L., Strovel, E.T., Jones, A.L., Sunny, S., Takats, Z., Tanyalcin, T., Teofoli, F., Thompson, J.R., Tomashitis, K., Domingos, M.T., Torres, J., Torres, R., Tortorelli, S., Turi, S., Turner, K., Tzanakos, N., Valiente, A.G., Vallance, H., Vela-Amieva, M., Vilarinho, L., von Döbeln, U., Vincent, M.F., Vorster, B.C., Watson, M.S., Webster, D., Weiss, S., Wilcken, B., Wiley, V., Williams, S.K., Willis, S.A., Woontner, M., Wright, K., Yahyaoui, R., Yamaguchi, S., Yssel, M., & Zakowicz, W.M. (Mar 2011). Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet. Med., 13, 230-54. doi:10.1097/GIM.0b013e31820d5e67 |
Y.12 |
National Academy of Sciences. Institute of Medicine. Food and Nutrition Board. (2010). Dietary Reference Intakes (DRIs). . |
L.130 |
National Institutes of Health Consensus Development Panel (Oct 2001). National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000. Pediatrics, 108(4):972-82. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/11581453 |
L.166 |
Platt, L.D., Koch, R., Hanley, W.B., Levy, H.L., Matalon, R., Rouse, B., Trefz, F., de la Cruz, F., Güttler, F., Azen, C., & Friedman, E.G. (Feb 2000). The international study of pregnancy outcome in women with maternal phenylketonuria: report of a 12-year study. Am. J. Obstet. Gynecol., 182(2):326-33. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10694332 |
L.195 |
Riggs, B.L., & Melton, L.J. (Nov 1995). The worldwide problem of osteoporosis: insights afforded by epidemiology. Bone, 17(5 Suppl):505S-511S. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8573428 |
L.202 |
van Bakel, M.M., Printzen, G., Wermuth, B., & Wiesmann, U.N. (Oct 2000). Antioxidant and thyroid hormone status in selenium-deficient phenylketonuric and hyperphenylalaninemic patients. Am. J. Clin. Nutr., 72(4):976-81. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/11010940 |
L.160 |
van Spronsen, F.J. (Jun 2011). Mild hyperphenylalaninemia: to treat or not to treat. J. Inherit. Metab. Dis., 34, 651-6. doi:10.1007/s10545-011-9283-y |
L.33 |
Waisbren, S.E., Noel, K., Fahrbach, K., Cella, C., Frame, D., Dorenbaum, A., & Levy, H. (2007 Sep-Oct). Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis. Mol. Genet. Metab., 92, 63-70. doi:10.1016/j.ymgme.2007.05.006 |
L.165 |
Widaman, K.F., & Azen, C. (Dec 2003). Relation of prenatal phenylalanine exposure to infant and childhood cognitive outcomes: results from the International Maternal PKU Collaborative Study. Pediatrics, 112(6 Pt 2):1537-43. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/14654661 |