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.171 |
Abdenur J, Crespo-Chapel C, Chang R, Wang R, Boyer M. Spong R. (2021). CHOC Palynziq Initiation Checklist. Children's Hospital Orange County Division of Metabolic Diseases. |
G.172 |
Abdenur J, Crespo-Chapel C, Chang R, Wang R, Boyer M. Spong R. (2021). Patient and Observer Palynziq Agreement. Children's Hospital Orange County Division of Metabolic Diseases. |
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, 792-6. doi:10.1093/ajcn/73.4.792 |
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.4493 |
Adams, D., Andersson, H.C., Bausell, H., Crivelly, K., Eggerding, C., Lah, M., Lilienstein, J., Lindstrom, K., McNutt, M., Ray, J.W., Saavedra, H., Sacharow, S., Starin, D., Tiffany-Amaro, J., Thomas, J., Vucko, E., Wessenberg, L.B., & Whitehall, K. (Sep 2021). Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics. Mol Genet Metab Rep, 28, 100790. doi:10.1016/j.ymgmr.2021.100790 |
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, 2-3. doi:10.1097/00005176-200401000-00002 |
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, 257-61. doi:10.1017/s0012162203000495 |
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: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, 230-8. doi:10.1017/s0012162204000386 |
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, 565-74. doi:10.1023/a:1026239921561 |
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, 622-30. doi:10.1111/j.1469-7610.2004.00251.x |
F.4497 |
Aryal, M., Lau, K., Boyer, R., Zhou, H., Abend, J., Gu, K., Olbertz, J., Gupta, S., Zoog, S., & Larimore, K. (11 2021). Achieving efficacy in subjects with sustained pegvaliase-neutralizing antibody responses. Mol Genet Metab, 134, 235-242. doi:10.1016/j.ymgme.2021.09.006 |
F.4428 |
Babaoğlu Aydaş, S., Şirin, S., & Aslim, B. (Dec 2016). Biochemical analysis of Centaurea depressa phenylalanine ammonia lyase (PAL) for biotechnological applications in phenylketonuria (PKU). Pharm Biol, 54, 2838-2844. doi:10.1080/13880209.2016.1185634 |
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.4430 |
Berguig, G.Y., Martin, N.T., Creer, A.Y., Xie, L., Zhang, L., Murphy, R., Pacheco, G., Bullens, S., Olbertz, J., & Weng, H.H. (12 2019). Of mice and men: Plasma phenylalanine reduction in PKU corrects neurotransmitter pathways in the brain. Mol Genet Metab, 128, 422-430. doi:10.1016/j.ymgme.2019.08.004 |
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.4499 |
Bilder, D.A., Arnold, G.L., Dimmock, D., Grant, M.L., Janzen, D., Longo, N., Nguyen-Driver, M., Jurecki, E., Merilainen, M., Amato, G., & Waisbren, S. (03 2022). Improved attention linked to sustained phenylalanine reduction in adults with early-treated phenylketonuria. Am J Med Genet A, 188, 768-778. doi:10.1002/ajmg.a.62574 |
G.167 |
Bjornskov Wessenberg, Leah (April 2021). OSHU Palynziq Patient Information. OHSU Metabolic Genetics. |
G.166 |
Bjornskov Wessenberg, Leah (April 2021). OSHU Suggested protocol for management of reactions to Palynziq. OHSU Metabolic Genetics. |
G.165 |
Bjornskov Wessenberg, Leah (April 2021). Palynziq Patient Education Curriculum and Protocol. OHSU Metabolic Genetics. |
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. 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.4487 |
Boyer, M., Skaar, J., Sowa, M., Tureson, J.R., Chapel-Crespo, C.C., & Chang, R. (Mar 2021). Continuation of pegvaliase treatment during pregnancy: A case report. Mol Genet Metab Rep, 26, 100713. doi:10.1016/j.ymgmr.2021.100713 |
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. doi:10.1007/pl00014373 |
F.4500 |
Burlina, A., Biasucci, G., Carbone, M.T., Cazzorla, C., Paci, S., Pochiero, F., Spada, M., Tummolo, A., Zuvadelli, J., & Leuzzi, V. (11 2021). Italian national consensus statement on management and pharmacological treatment of phenylketonuria. Orphanet J Rare Dis, 16, 476. doi:10.1186/s13023-021-02086-8 |
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, 679-686. 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, 1-11. doi:10.1023/a:1024063726046 |
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, 474-85. doi:10.1111/j.1365-277x.2008.00879.x |
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, 515-6. doi:10.1023/a:1010546000617 |
F.2390 |
Frank, N., Fitzgerald, R., & Legge, M. (Sep 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.4441 |
Gupta, S., Lau, K., Harding, C.O., Shepherd, G., Boyer, R., Atkinson, J.P., Knight, V., Olbertz, J., Larimore, K., Gu, Z., Li, M., Rosen, O., Zoog, S.J., Weng, H.H., & Schweighardt, B. (Nov 2018). Association of immune response with efficacy and safety outcomes in adults with phenylketonuria administered pegvaliase in phase 3 clinical trials. EBioMedicine, 37, 366-373. doi:10.1016/j.ebiom.2018.10.038 |
G.154 |
Hacker S, Thorson W, Barbouth DS (10/4/2019). Suggested Protocol for the Management of Reactions to Palynziq. Dr. John T. Macdonald Foundation Department of Human Genetics at the University of Miami Miller School of Medicine. |
G.153 |
Hacker S, Thorson W, Barbouth DS (6/1/2020). Palynziq Patient Information. Dr. John T. Macdonald Foundation Department of Human Genetics at the University of Miami Miller School of Medicine. |
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.4442 |
Hausmann, O., Daha, M., Longo, N., Knol, E., Müller, I., Northrup, H., & Brockow, K. (2019 Sep - Oct). Pegvaliase: Immunological profile and recommendations for the clinical management of hypersensitivity reactions in patients with phenylketonuria treated with this enzyme substitution therapy. Mol Genet Metab, 128, 84-91. doi:10.1016/j.ymgme.2019.05.006 |
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 |
G.160 |
Holmes, B and Spencer-Manzon, M (March 2021). Palynziq Clinic Protocol Yale Genetics. Yale Medicine Department of Genetics, New Haven, CT. |
G.161 |
Holmes, B and Spencer-Manzon, M (March 2021). Palynziq Initial Injection Visits. Yale Medicine Department of Genetics, New Haven, CT. |
G.163 |
Holmes, B and Spencer-Manzon, M (March 2021). Palynziq Patient Information Sheet. Yale Medicine Department of Genetics, New Haven, CT. |
G.162 |
Holmes, B and Spencer-Manzon, M (March 2021). Palynziq Post-Anaphylaxis Re-Start Protocol. Yale Medicine Department of Genetics, New Haven, CT. |
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, 419-30. doi:10.1023/a:1021205713674 |
F.4445 |
Hydery, T., & Coppenrath, V.A. (2019). A Comprehensive Review of Pegvaliase, an Enzyme Substitution Therapy for the Treatment of Phenylketonuria. Drug Target Insights, 13, 1177392819857089. doi:10.1177/1177392819857089 |
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, 110-3. doi:10.1016/s1096-7192(03)00078-7 |
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 |
G.173 |
Kopesky JJ and Sperl NA (April 2021). Case Reports of Successful Pregnancies after Temporary Discontinuation of Palynziq. Children's Wisconsin. |
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.4502 |
Lah, M., & McPheron, M. (07 2021). Palynziq clinic: One year and 43 patients later. Mol Genet Metab, 133, 250-256. doi:10.1016/j.ymgme.2021.05.006 |
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.4459 |
Longo, N., Dimmock, D., Levy, H., Viau, K., Bausell, H., Bilder, D.A., Burton, B., Gross, C., Northrup, H., Rohr, F., Sacharow, S., Sanchez-Valle, A., Stuy, M., Thomas, J., Vockley, J., Zori, R., & Harding, C.O. (08 2019). Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria. Genet Med, 21, 1851-1867. doi:10.1038/s41436-018-0403-z |
F.4460 |
Longo, N., Zori, R., Wasserstein, M.P., Vockley, J., Burton, B.K., Decker, C., Li, M., Lau, K., Jiang, J., Larimore, K., & Thomas, J.A. (07 2018). Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study. Orphanet J Rare Dis, 13, 108. doi:10.1186/s13023-018-0858-7 |
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, 305-12. doi:10.1016/s1096-7192(02)00113-0 |
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, 319-26. doi:10.1023/a:1025186217369 |
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, F141-3. doi:10.1136/fn.87.2.f141 |
F.4462 |
Mahan, K.C., Gandhi, M.A., & Anand, S. (04 2019). Pegvaliase: a novel treatment option for adults with phenylketonuria. Curr Med Res Opin, 35, 647-651. doi:10.1080/03007995.2018.1528215 |
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.4463 |
Markham, A. (Aug 2018). Pegvaliase: First Global Approval. BioDrugs, 32, 391-395. doi:10.1007/s40259-018-0292-3 |
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, 357-68. doi:10.1080/03014469100001662 |
G.150 |
McWhorter, Nicole (2019). Increasing Protein Intake: Ideas and Products to Boost Your High Protein Intake. University of Kentucky Division of Metabolism. |
G.149 |
McWhorter, Nicole (2019). Meats, Beans, Dairy and Nuts: Adding Protein to your Meals in a Healthy Way. University of Kentucky Division of Metabolism. |
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, 56-64. doi:10.1023/a:1015142001578 |
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, 358-63. doi:10.1046/j.1440-1754.2003.00174.x |
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, 846-50. doi:10.1007/pl00008351 |
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 |
F.4467 |
PAL-002 and PAL-004 Investigators, Burton, B.K., Longo, N., Vockley, J., Grange, D.K., Harding, C.O., Decker, C., Li, M., Lau, K., Rosen, O., Larimore, K., & Thomas, J. (08 2020). Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up. Mol Genet Metab, 130, 239-246. doi:10.1016/j.ymgme.2020.06.006 |
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. (Jan 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.4471 |
PRISM investigators, Thomas, J., Levy, H., Amato, S., Vockley, J., Zori, R., Dimmock, D., Harding, C.O., Bilder, D.A., Weng, H.H., Olbertz, J., Merilainen, M., Jiang, J., Larimore, K., Gupta, S., Gu, Z., & Northrup, H. (05 2018). Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM). Mol Genet Metab, 124, 27-38. doi:10.1016/j.ymgme.2018.03.006 |
F.4503 |
Qi, Y., Patel, G., Henshaw, J., Gupta, S., Olbertz, J., Larimore, K., Harding, C.O., Merilainen, M., Zori, R., Longo, N., Burton, B.K., Li, M., Gu, Z., Zoog, S.J., Weng, H.H., & Schweighardt, B. (09 2021). Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuria. Clin Transl Sci, 14, 1894-1905. doi:10.1111/cts.13043 |
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. (Nov 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, 545-7. doi:10.1016/s0022-3476(00)90022-2 |
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.4495 |
Rocha, J.C., Bausell, H., Bélanger-Quintana, A., Bernstein, L., Gökmen-Özel, H., Jung, A., MacDonald, A., Rohr, F., van Dam, E., & Heddrich-Ellerbrok, M. (09 2021). Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase. Mol Genet Metab Rep, 28, 100771. doi:10.1016/j.ymgmr.2021.100771 |
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.157 |
Rohr F, Burton BK, Longo N, Thomas J, Harding CO, Rosen O, Gu Z, Olbertz J, Weng HH (2020). Evaluating Change In Diet With Pegvaliase Treatment In Adults With Phenylketonuria: Results From Phase 2 And 3 Clinical Trials. BioMarin Clinical Trial; Boston Children's Hospital,. |
G.88 |
Rohr, F. et al. (2009, September 22). Maternal PKU. Message posted to Metabolic Dietician List, <PNO-METAB-L@LISTSERV.CC.EMORY.EDU>
|
F.4474 |
Rohr, F., Kritzer, A., Harding, C.O., Viau, K., & Levy, H.L. (Mar 2020). Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report. Mol Genet Metab Rep, 22, 100555. doi:10.1016/j.ymgmr.2019.100555 |
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. (Oct 2005). Protein substitute for children and adults with phenylketonuria. Cochrane Database Syst Rev. doi:10.1002/14651858.CD004731.pub2 |
G.159 |
Sacharow S, Papaleo C. Almeida K, Wessel A, Martell L, Kritzer A, Viau K (2020). First Year PAL Clinic Experiences and Outcomes: Large Cohort of PKU Patients on Pegvaliase. Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA. |
G.164 |
Sacharow S, Papaleo C. Almeida K, Wessel A, Martell L, Kritzer A, Viau K. Boston Children's Hospital PAL Clinic Overview. https://www.childrenshospital.org/centers-and-services/programs/o-_-z/pku/pal-clinic. Accessed 4/12/21 |
F.4475 |
Sacharow, S., Papaleo, C., Almeida, K., Goodlett, B., Kritzer, A., Levy, H., Martell, L., Wessel, A., & Viau, K. (Sep 2020). First 1.5 years of pegvaliase clinic: Experiences and outcomes. Mol Genet Metab Rep, 24, 100603. doi:10.1016/j.ymgmr.2020.100603 |
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, 905-9. doi:10.1080/080352502760148612 |
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, 57-62. doi:10.1097/00005176-200007000-00013 |
F.2448 |
Simon, E., Schwarz, M., Roos, J., Dragano, N., Geraedts, M., Siegrist, J., Kamp, G., & Wendel, U. (Mar 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. (Dec 2012). Sapropterin dihydrochloride for phenylketonuria. Cochrane Database Syst Rev, 12, CD008005. doi:10.1002/14651858.CD008005.pub3 |
G.170 |
Sowa M and Ray J (2021). Palynziq Tracker. Children's Hospital Orange County. CA and UTMB Galveston TX. |
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.4478 |
SriBhashyam, S., Marsh, K., Quartel, A., Weng, H.H., Gershman, A., Longo, N., Thomas, J., & Zori, R. (Dec 2019). A benefit-risk analysis of pegvaliase for the treatment of phenylketonuria: A study of patients' preferences. Mol Genet Metab Rep, 21, 100507. doi:10.1016/j.ymgmr.2019.100507 |
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 |
G.168 |
Swager S, Leeper S, Goff M, Golden B, Loar C, and Suver, C (2020). Starting Palynziq Therapy. Nationwide Children's Hospital Metabolic Genetics Clinic, Columbus OH. |
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. (Jun 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.158 |
Thomas J, Jurecki E, Lane P, Olbertz J, Wang B, Longo N Harding CO, Burton BK, Rohr F, Van Calcar S (2020). Dietary intakes and adverse events in Pegvaliase-treated phenylketonuria adults who had low blood phenylalanine levels. BioMarin Clinical Trial; University of Colorado School of Medicine and Colorado Children's Hospital, Aurora, CO. |
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, 153-7. doi:10.1093/ajcn/73.2.153 |
F.4496 |
Viau, K., Wessel, A., Martell, L., Sacharow, S., & Rohr, F. (08 2021). Nutrition status of adults with phenylketonuria treated with pegvaliase. Mol Genet Metab, 133, 345-351. doi:10.1016/j.ymgme.2021.06.002 |
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, 756-62. doi:10.1001/jama.283.6.756 |
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, 55-7. doi:10.1016/s0140-6736(02)09334-0 |
F.1159 |
Webster, D., & Wildgoose, J. (Aug 2010). Tyrosine supplementation for phenylketonuria. Cochrane Database Syst Rev. doi:10.1002/14651858.CD001507.pub2 |
F.1431 |
Webster, D., & Wildgoose, J. (Jun 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, 274-7. doi:10.1046/j.1365-3016.2002.00423.x |
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 |
F.4485 |
Zori, R., Ahring, K., Burton, B., Pastores, G.M., Rutsch, F., Jha, A., Jurecki, E., Rowell, R., & Harding, C. (2019 Sep - Oct). Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria. Mol Genet Metab, 128, 92-101. doi:10.1016/j.ymgme.2019.07.018 |
F.4486 |
Zori, R., Thomas, J.A., Shur, N., Rizzo, W.B., Decker, C., Rosen, O., Li, M., Schweighardt, B., Larimore, K., & Longo, N. (11 2018). Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuria. Mol Genet Metab, 125, 217-227. doi:10.1016/j.ymgme.2018.06.010 |
ID |
Reference |
Y.32 |
|
Y.33 |
|
L.196 |
Basit, S. (2013). Vitamin D in health and disease: a literature review. Br J Biomed Sci, 70, 161-72. doi:10.1080/09674845.2013.11669951 |
L.362 |
Berryman, C.E., Lieberman, H.R., Fulgoni, V.L., & Pasiakos, S.M. (08 2018). Protein intake trends and conformity with the Dietary Reference Intakes in the United States: analysis of the National Health and Nutrition Examination Survey, 2001-2014. Am J Clin Nutr, 108, 405-413. doi:10.1093/ajcn/nqy088 |
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, 140-3. doi:10.1007/BF02072491 |
L.363 |
Bosch, A.M., Burlina, A., Cunningham, A., Bettiol, E., Moreau-Stucker, F., Koledova, E., Benmedjahed, K., & Regnault, A. (Jun 2015). Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries. Orphanet J Rare Dis, 10, 80. doi:10.1186/s13023-015-0294-x |
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, 562-7. doi:10.1016/s0022-3476(05)82405-9 |
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.364 |
Jurecki, E., Cunningham, A., Birardi, V., Gagol, G., & Acquadro, C. (Mar 2017). Development of the US English version of the phenylketonuria - quality of life (PKU-QOL) questionnaire. Health Qual Life Outcomes, 15, 46. doi:10.1186/s12955-017-0620-1 |
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.35 |
Koch, R., Hanley, W., Levy, H., Matalon, R., Rouse, B., Trefz, F., Guttler, F., Azen, C., Friedman, E., Platt, L., & de la Cruz, F. (2000 Sep-Oct). Maternal phenylketonuria: an international study. Mol Genet Metab, 71, 233-9. doi:10.1006/mgme.2000.3038 |
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.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, 972-82. doi:10.1542/peds.108.4.972 |
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, 326-33. doi:10.1016/s0002-9378(00)70219-5 |
L.195 |
Riggs, B.L., & Melton, L.J. (Nov 1995). The worldwide problem of osteoporosis: insights afforded by epidemiology. Bone, 17, 505S-511S. doi:10.1016/8756-3282(95)00258-4 |
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, 976-81. doi:10.1093/ajcn/72.4.976 |
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 |
L.365 |
Wolfe, R.R., Cifelli, A.M., Kostas, G., & Kim, I.Y. (Mar 2017). Optimizing Protein Intake in Adults: Interpretation and Application of the Recommended Dietary Allowance Compared with the Acceptable Macronutrient Distribution Range. Adv Nutr, 8, 266-275. doi:10.3945/an.116.013821 |