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Список литературы

  1. Thomason MJ, Lord J, Bain MD, et al. A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism. J Public Health Med. 1998;20(3):331-343. doi: 10.1093/oxfordjournals.pubmed.a024777.
  2. Regier DS, Greene CL. Phenylalanine Hydroxylase Deficiency. 2000 Jan 10 [Updated 2017 Jan 5]. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1504/.
  3. van Spronsen FJ, van Wegberg AM, Ahring K, et al. Key European guidelines for the diagnosis and management of patients with phenylketonuria. Lancet Diabetes Endocrinol. 2017;5(9):743-756. doi:10.1016/S2213-8587(16)30320-5.
  4. Vockley J, Andersson HC, Antshel KM, et al. Phenylalanine hydroxylase deficiency: diagnosis and management guideline [published correction appears in Genet Med. 2014 Apr;16(4):356]. Genet Med. 2014;16(2):188-200. doi:10.1038/gim.2013.157.
  5. Blau N, Bélanger-Quintana A, Demirkol M, et al. Management of phenylketonuria in Europe: survey results from 19 countries. Mol Genet Metab. 2010;99(2):109-115. doi: 10.1016/j.ymgme.2009.09.005.
  6. Blau N, Hennermann JB, Langenbeck U, Lichter-Konecki U. Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies. Mol Genet Metab. 2011;104 Suppl:S2-S9. doi: 10.1016/j.ymgme.2011.08.017.
  7. Blau N, Shen N, Carducci C. Molecular genetics and diagnosis of phenylketonuria: state of the art. Expert Rev Mol Diagn. 2014;14(6):655-671. doi:10.1586/14737159.2014.923760.
  8. Gundorova P, Stepanova AA, Kuznetsova IA, Kutsev SI, Polyakov AV. Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia. PLoS One. 2019;14(1):e0211048. Published 2019 Jan 22. doi: 10.1371/journal.pone.0211048.
  9. Trujillano D, Perez B, González J, et al. Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing. Eur J Hum Genet. 2014;22(4):528-534. doi:10.1038/ejhg.2013.175.
  10. Kuznetcova I., Gundorova P., Ryzhkova O., Polyakov A. The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene// Metab Brain Dis. 2019. doi: 10.1007/s11011-019-00461-w.
  11. Guldberg P, Rey F, Zschocke J, et al. A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype [published correction appears in Am J Hum Genet 1998 Oct;63(4):1252-3]. Am J Hum Genet. 1998;63(1):71-79. doi:10.1086/301920.
  12. Danecka MK, Woidy M, Zschocke J, Feillet F, Muntau AC, Gersting SW. Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria. J Med Genet. 2015;52(3):175-185. doi:10.1136/jmedgenet-2014-102621.
  13. Wettstein S, Underhaug J, Perez B, et al. Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria. Eur J Hum Genet. 2015;23(3):302-309. doi:10.1038/ejhg.2014.114.
  14. Hawks Z, Hood AM, Lerman-Sinkoff DB, et al. White and gray matter brain development in children and young adults with phenylketonuria. Neuroimage Clin. 2019; 23:101916. doi: 10.1016/j.nicl.2019.101916.
  15. Feillet F, van Spronsen FJ, MacDonald A, et al. Challenges and pitfalls in the management of phenylketonuria. Pediatrics. 2010;126(2):333-341. doi:10.1542/peds.2009-3584.
  16. van Wegberg AMJ, MacDonald A, Ahring K, et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis. 2017;12(1):162. Published 2017 Oct 12. doi:10.1186/s13023-017-0685-2.
  17. Blau N., van Spronsen F.J., Levy H.L. Phenylketonuria// Lancet. 2010. V.376. №9750. P.1417–27.
  18. Smith I., Beasley M.G., Ades A.E. Intelligence and quality of dietary treatment in phenylketonuria//Arch Dis Child. 1990. V.65. №5. P.472–478.
  19. Singh R.H., Cunningham A.C., Mofidi S., Douglas T.D. et al. Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach// Mol Genet Metab. 2016. V.118. №2. P.72-83.
  20. Singh R.H., Rohr F., Frazier D. Cunningham, A., Mofidi, S., Ogata, B.,  Van Calcar, S. C Recommendations for the nutrition management of phenylalanine hydroxylase deficiency// Genet Med. 2014. 16(2), 121–131 doi:10.1038/gim.2013.179 
  21. Pinto A., Adams S., Ahring K., Allen H. et al. Weaning practices in phenylketonuria vary between health professionals in Europe. Mol Genet Metab Rep. 2018. V.18. P.39-44.
  22. Rocha J.C., MacDonald A. Dietary intervention in the management of phenylketonuria: current perspectives //Pediatric Health Med. Therap. 2016. V.7. P.155–63.
  23. Бушуева Т.В., Боровик Т.Э., Фисенко А.П. и др. Информационные материалы. Специализированные продукты лечебного питания для детей с фенилкетонурией// Москва. 2018г. 127 с.
  24. Aguiar A., Ahring K., Almeida M.F. et al. Practices in prescribing protein substitutes for PKU in Europe: no uniformity of approach Molecular Genetics and Metabolism. 2015. V. 115. № . P. 17-22.
  25. van Spronsen F.J., van Rijn M., van Dijk T., Smit G.P. et al. Plasma phenylalanine and tyrosine responses to different nutritional conditions (fasting/postprandial) in patients with phenylketonuria: effect of sample timing// Pediatrics. 1993. V.92. V.4. P.570–3.
  26. Feillet F., Muntau A.C., Debray F.G., Lotz-Havla A.S. et al. Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases //J. Inherit. Metab. Dis.2014. V.37. P. 753-62.
  27. Muntau A.C., du Moulin M., Feillet F. Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0-4 years of age // Orphanet J Rare Dis. 2018. V.13. №1. P.173. doi: 10.1186/s13023-018-0911-6.
  28. Muntau A.C., Adams D.J., Bélanger-Quintana A., Bushueva T.V. et al International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria// Molecular Genetics and Metabolism. 2019. V.127. №1. P.:1-11.
  29. Channon S., Goodman G., Zlotowitz S. et al. Effects of dietary management of phenylketonuria on long-term cognitive outcome// Arch Dis Child. 2007. V.92. №3. P.213–18.
  30. ten Hoedt A.E., de Sonneville L.M., Francois B. et al. 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. 2011. V.34. №1. P.165–71.
  31. Pode-Shakked B., Shemer-Meiri L., Harmelin A. et al. Man made disease: clinical manifestations of low phenylalanine levels in an nadequately treated phenylketonuria patient and mouse study// Mol Genet Metab. 2013. V.110. Suppl:S66-70.
  32. Lord J., Thomason M.J., Littlejohns P., Chalmers R.A. et al. Secondary analysis of economic data: a review of cost-benefit studies of neonatal screening for phenylketonuria// J Epidemiol Community Health.1999. V.53. №3. P.179–86.
  33. Blau N., Burton B.K., Thöny B. et al. Phenylketonuria and BH4 Deficiencies// 1st edition-Bremen:UNI-MED. 2010. 94P
  34. Dhondt J.L. Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenylalaninaemic patients: 15-years’ experience // J Inherit Metab Dis. 1991. V.14. №2. P.117–27.
  35. Opladen T., Hoffmann G.F., Blau N. An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia// J Inherit Metab Dis. 2012. V.35. №6. P.963–73.
  36. Fonnesbeck C.J., McPheeters M.L., Krishnaswami S.et al. Estimating the probability of IQ impairment from blood phenylalanine for phenylketonuria patients: a hierarchical meta-analysis// J Inherit Metab Dis. 2013. V.36. №5. P.757–66.
  37. Waisbren S.E., Noel K., Fahrbach K. et al. Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis// Mol Genet Metab. 2007. V.92. №1–2. P. 63–70.
  38. Regnault A., Burlina A., Cunningham A. et al. Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients" and parents" quality of life: the phenylketonuria - quality of life (PKU-QOL) questionnaires// Orphanet J Rare Dis. 2015. V.10. №1. P.59.
  39. Bosch A.M., Burlina A., Cunningham A. et al. 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. 2015. V.10. №1. P.80.
  40. Albrecht J., Garbade S.F., Burgard P. Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: a metaanalysis// Neurosci Biobehav Rev. 2009. V.33. №3. P.414–21.
  41. Weglage J., Fromm J., van Teeffelen-Heithoff A. et al. Neurocognitive functioning in adults with phenylketonuria: results of a long term study// Mol Genet Metab. 2013. V.110. Suppl:S44-S48.
  42. Berlin C.M. L.H., Hanley W.B. Delayed increase in blood phenylalanine concentration in phenylketonuric children initially classified as mild hyperphenylalaninemia. 1995. V.4. P.35–9.
  43. Schulze A., Mayatepek E., Hoffmann G.F. Evaluation of 6-year application of the enzymatic colorimetric phenylalanine assay in the setting of neonatal screening for phenylketonuria// Clin Chim Acta. 2002. V.317. №1–2. P.27–37.
  44. Bodley JL, Austin VJ, Hanley WB, Clarke JT, Zlotkin S. 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. 1993;152(2):140-143. doi:10.1007/BF02072491.
  45. Приказ Министерства здравоохранения РФ от 9 ноября 2012 г. N 737н "Об утверждении стандарта специализированной медицинской помощи детям при классической фенилкетонурии".
  46. Evans S., Daly A., MacDonald J. et al. The micronutrient status of patients with phenylketonuria on dietary treatment: an ongoing challenge//Ann Nutr Metab. 2014. V.65. №1. P.42–8.
  47. Robert M., Rocha J.C., van Rijn M. et al. Micronutrient status in phenylketonuria// Mol Genet Metab. 2013. V.110. Suppl:S6-17.
  48. Demirdas S., Coakley K.E., Bisschop P.H.et al. Bone health in phenylketonuria: a systematic review and meta-analysis// Orphanet J Rare Dis. 2015. V.10. P.17.
  49. Wiig I., Motzfeldt K., Loken E.B., Kase B.F. Nutritional consequences of adhering to a low phenylalanine diet for late-treated adults with PKU: low Phe diet for adults with PKU// JIMD Rep. 2013. V.7. P.109–16.
  50. Hansen K.E., Ney D. A systematic review of bone mineral density and fractures in phenylketonuria// J Inherit Metab Dis. 2014. V.37. №6. P.875–80.
  51. Anjema K., van Rijn M., Verkerk P.H. et al. PKU: high plasma phenylalanine concentrations are associated with increased prevalence of mood swings// Mol Genet Metab. 2011. V.104. №3. P. 231–4.
  52. Голихина Т.А., Люманова Э.Р. Психологический статус личности детей фенилкетонурией, получающих диетотерапию с раннего возраста // Кубанский научный медицинский вестник. 2011. Т.8. №122. С.50-3.
  53. Pintoa A., Adamsb S., Ahringc K., Allend H. et al. Weaning practices in phenylketonuria vary between health professionals in Europe// Molecular Genetics and Metabolism Reports.2019. V.18. P. 39–44.
  54. Grange D.K., Hillman R.E., Burton B.K. et al. Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registry// Mol. Genet. Metab.2014. 112. P. 9-16.
  55. Абрамов, Д. Д., Кадочникова, В. В., Якимова, Е. Г., Белоусова и др. Высокая частота носительства в российской популяции мутаций гена CFTR, ассоциированных с муковисцидозом, и мутаций гена PAH, ассоциированных с фенилкетонурией // Вестник РГМУ. 2015. №4. С. 32–35.
  56. Бочков Н.П. Клиническая генетика Учебник.-2-е изд.,перераб. и доп.-М.:ГЭОТАР-МЕД,2001.-448с.:ил.
  57. Brumm VL, Grant ML. The role of intelligence in phenylketonuria: a review of research and management//Mol Genet Metab. 2010;99 Suppl 1:S18–21
  58. Moyle JJ, Fox AM, Arthur M, Bynevelt M, Burnett JR. Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU// Neuropsychol Rev. 2007;17:91–101.
  59. Bilder DA, Burton BK, Coon H, Leviton L, Ashworth J, Lundy BD, Vespa H, Bakian AV, Longo N. Psychiatric symptoms in adults with phenylketonuria//Mol Genet Metab. 2013;108:155–60.
  60. Camp KM, Parisi MA, Acosta PB, Berry GT et al. Phenylketonuria Scientific Review Conference: state of the science and future research needs// Mol Genet Metab. 2014;112:87–122.
  61. Modan-Moses D, Vered I, Schwartz G, Anikster Y, Abraham S, Segev R, Efrati O. Peak bone mass in patients with phenylketonuria//J Inherit Metab Dis. 2007;30:202–8.
  62. Coakley KE, Douglas TD, Goodman M, Ramakrishnan U, Dobrowolski SF, Singh RH. Modeling correlates of low bone mineral density in patients with phenylalanine hydroxylase deficiency// J Inherit Metab Dis. 2016;39:363–72.
  63. Robinson M, White FJ, Cleary MA, Wraith E, Lam WK, Walter JH. Increased risk of vitamin B12 deficiency in patients with phenylketonuria on an unrestricted or relaxed diet//J Pediatr. 2000;136:545–7.
  64. Steinberger D., Blau N., Goriuonov D. et al. Heterozygous mutation in 5"-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia // Neurogenetics. - 2004. - V.5 - P. 187-190
  65. Blau N., Martinez A., Hoffmann G. F., Thony B. DNAJC12 deficiency: a new strategy in the diagnosis of hyperphenylalaninemias//Molec. Genet. Metab. 123: 1-5, 2018.
  66. Волгина С.Я., Яфарова С.Ш., Клетенкова Г.Р. Фенилкетонурия у детей: современные аспекты патогенеза, клинических проявлений, лечения// Рос вестн перинатол и педиатр. 2017; 62:(5): 111–118.
  67. Бушуева Т.В., Боровик Т.Э., Ладодо К.С. и др. Оценка физического развития у детей с классической фенилкетонурией. Вопр пит 2015; 84 (2): 34–43.
  68. Coakley K.E., Felner E.I., Tangpricha V. et al. Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency// JIMDRep 2017. DOI: 10.1007/8904_2016_39
  69. Бушуева Т.В., Винярская И.В., Черников В.В. и др. Оценка качества жизни детей, больных фенилкетонурией// Вестник Российской академии медицинских наук 2014; 11–12: 39–45.
  70. Николаева Е.А., Яблонская М.И., Харабадзе М.Н. и др. Диагностика и лечение биоптериндефицитной гиперфенилаланинемии// Российский вестник перинатологии и педиатрии. 2015;60(2):66-71
  71. Ford S., O"Driscoll M., MacDonald A. Living with Phenylketonuria: Lessons from the PKU community. Mol Genet Metab Rep. 2018; 17:57‐63. Published 2018 Oct 18. doi: 10.1016/j.ymgmr.2018.10.002
  72. А.Pinto, M.F. Almeida, A. Cunha, C. Carmona, S. Rocha, et al. Dietary management of maternal phenylketonuria with glycomacropeptide and amino acids supplements: A case report//Molecular Genetics and Metabolism Reports. Volume 13, December 2017, Pages 105-110. doi: 10.1016/j.ymgmr.2017.10.004
  73. Sween L. K., Althouse A. D., Roberts J. M. Early-pregnancy percent body fat in relation to preeclampsia risk in obese women. American Journal of Obstetrics & Gynecology. 2015;212(1):84.e1–84.e7. doi: 10.1016/j.ajog.2014.07.055.
  74. Levy H.L., Guldberg P., Guttler F. et al. congenital heart disease in maternal phenylketonuria: report from the maternal PKU collaborative study// Pediatr Res. 2001;49(5):636–642.
  75. Antenor-Dorsey J.A., Hershey T., Rutlin J. et al. White matter integrity and executive abilities in individuals with phenylketonuria// Mol Genet Metab. 2013;109(2):125–131.
  76. White D.A., Connor L.T., Nardos B. et al. Age-related decline in the microstructural integrity of white matter in children with early- and continuously-treated PKU: a DTI study of the corpus callosum// Mol Genet Metab. 2010;99(Suppl 1):S41–S46
  77. Jahja R., Huijbregts S.C., de Sonneville L.M.  et al. Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study// Mol Genet Metab. 2013;110 Suppl: S57-61
  78. Joshua Arbesman, Sairekha Ravichandran, Pauline Funchain, Cheryl L. Thompson. Melanoma cases demonstrate increased carrier frequency of Phenylketonuria/hyperphenylalanemia mutations//Pigment Cell Melanoma Res. 2018 Jul; 31(4): 529–533. doi: 10.1111/pcmr.12695
  79. Witalis E., Mikoluc B., Motkowski R. et al. Phenylketonuria patients" and their parents" knowledge and attitudes to the daily diet - multi-centre study// Nutr Metab (Lond). 2017;14:57. Published 2017 Aug 17. doi:10.1186/s12986-017-0207-1
  80. Bernstein L.E., Helm J.R., Rocha J.C. et al. Nutrition education tools used in phenylketonuria: clinician, parent and patient perspectives from three international surveys// J Hum Nutr Diet. 2014;27(Suppl 2):4–11
  81. Durham-Shearer S.J., Judd P.A., Whelan K., Thomas J.E. 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. 2008;21(5):474–485
  82. Bekhof J., van Spronsen F.J., Crone M.R. et al. Influence of knowledge of the disease on metabolic control in phenylketonuria// Eur J Pediatr. 2003;162(6):440–442
  83. Aline Azabdaftari , Markus van der Giet, Mirjam Schuchardt , Julia B Hennermann , Ursula Plöckinger , Uwe Querfeld The Cardiovascular Phenotype of Adult Patients With Phenylketonuria Orphanet J Rare Dis. 2019 Sep 6;14(1):213. doi: 10.1186/s13023-019-1188-0
  84. Rocha J.C., Macdonald A., Trefz F. Is overweight an issue in phenylketonuria? //Mol. Genet. Metab. 2013;110:S18–S24.
  85. Doulgeraki A., Skarpalezou A., Theodosiadou A. et al. Body composition profile of young patients with phenylketonuria and mild hyperphenylalaninemia//Int. J. Endocrinol. Metab. 2014;12:e16061
  86. Priscila Nicolao Mazzola, Bruno Costa Teixeira, Gabriel Henrique Schirmbeck, et al  Acute exercise in treated phenylketonuria patients: Physical activity and biochemical response//Mol Genet Metab Rep. 2015 Dec; 5: 55–59. Published online 2015 Oct 22. doi: 10.1016/j.ymgmr.2015.10.003
  87. Opladen T, López-Laso E, Cortès-Saladelafont E, et al. Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies [published correction appears in Orphanet J Rare Dis. 2020 Aug 5;15(1):202]. Orphanet J Rare Dis. 2020;15(1):126. Published 2020 May 26. doi:10.1186/s13023-020-01379-8.
  88. Mancini P.C., Durrant J.D., Starling A.L., Iório MC. Children with phenylketonuria treated early: basic audiological and electrophysiological evaluation// Ear Hear. 2013;34(2):236‐244. doi:10.1097/AUD.0b013e31826a1c99
  89. Бушуева Т.В., Боровик Т.Э., Фисенко А.П. и др. Специализированные продукты лечебного питания для детей с фенилкетонурией// Москва, 2018. (4-е издание переработанное и дополненное) 128с.
  90. F. J. van Spronsen , A. Bélanger-Quintana. Outcomes of Phenylketonuria with Relevance to Follow-Up//JIMD Rep. 2011; 1: 49–55
  91. Guida M, Pesaresi I, Fabbri S, Sartucci F, Cosottini M, Giorgi FS. Epilepsy and phenylketonuria: a case description and EEG-fMRI findings. Funct Neurol. 2014;29(1):75-79.
  92. Julia B. Hennermann, Sylvia Roloff, Jutta Gellermann et al. Chronic kidney disease in adolescent and adult patients with phenylketonuria// J Inherit Metab Dis. 2013 Sep;36(5):747-56.
  93. Robin A Williams, Cyril DS Mamotte, John R Burnett. Phenylketonuria: An Inborn Error of Phenylalanine Metabolism//Clin Biochem Rev. 2008 Feb; 29(1): 31–41
  94. Scala I., Concolino D., Casa R.D. et al. Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years’ experience//Orphanet J Rare Dis 10, 14 (2015). https://doi.org/10.1186/s13023-015-0227-8
  95. A. M. Das, K. Goedecke, U. Meyer,N. et al. Dietary Habits and Metabolic Control in Adolescents and Young Adults with Phenylketonuria: Self-Imposed Protein Restriction May Be Harmful//JIMD Rep. 2014; 13: 149–158.
  96. Hofman D.L., Champ C.L., Lawton C.L. et al. A systematic review of cognitive functioning in early treated adults with phenylketonuria//Orphanet J Rare Dis. 2018;13(1):150. Published 2018 Aug 30. doi:10.1186/s13023-018-0893-4
  97. Qu J., Yang T., Wang E. et al. Efficacy and safety of sapropterin dihydrochloride in patients with phenylketonuria: A meta-analysis of randomized controlled trials// Br J Clin Pharmacol. 2019;85(5):893-899. doi:10.1111/bcp.13886
  98. Somaraju U.R., Merrin M. Sapropterin dihydrochloride for phenylketonuria. Cochrane Database Syst Rev. 2015;2015(3):CD008005. Published 2015 Mar 27. doi:10.1002/14651858.CD008005.pub4
  99. Trefz K. F., Muntau A. C., Kohlscheen K. M., Altevers J. et al. Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data// Orphanet J Rare Dis. 2019; 14: 181. doi: 10.1186/s13023-019-1153-y
  100. Голихина Т.А. Фенилкетонурия у детей в Краснодарском крае (клинико-эпидемиологическое исследование) Автореф. дисс. к.м.н. 2004г.24с.
  101. Burlina AP, Cazzorla C, Massa P, Polo G, Loro C, Gueraldi D, Burlina AB. Large Neutral Amino Acid Therapy Increases Tyrosine Levels in Adult Patients with Phenylketonuria: A Long-Term Study. Nutrients. 2019 Oct 21;11(10):2541
  102. Sharman R, Sullivan K, Young R, McGill J. 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. 2010;35(1):57-65
  103. Ashe K, Kelso W, Farrand S, Panetta J, Fazio T, De Jong G, Walterfang M. Psychiatric and Cognitive Aspects of Phenylketonuria: The Limitations of Diet and Promise of New Treatments. Front Psychiatry. 2019 Sep 10;10:561
  104. Greeves LG, Thomas PS, Carson DJ. Radiological assessment of the hand and wrist in phenylketonuria and hyperphenylalaninaemia. Pediatr Radiol. 1995;25(5):353-5
  105. Peng H, Peck D, White DA, Christ SE. Tract-based evaluation of white matter damage in individuals with early-treated phenylketonuria. J Inherit Metab Dis. 2014;37(2):237–243.
  106. Levy HL. Historical background for the maternal PKU syndrome. Pediatrics. 2003;112 (6 pt 2):1516– 1518
  107. Brown AS, Fernhoff PM, Waisbren SE, et al. Barriers to successful dietary control among pregnant women with phenylketonuria. Genet Med. 2002;4 (2):84– 89
  108. Wang L, Yu WM, He C, Chang M, Shen M, Zhou Z, Zhang Z, Shen S, Liu TT, Hsiao KJ. Long-term outcome and neuroradiological findings of 31 patients with 6-pyruvoyltetrahydropterin synthase deficiency. J Inherit Metab Dis. 2006 Feb;29(1):127-34. doi: 10.1007/s10545-006-0080-y. PMID: 16601879.
  109. Hennermann JB, Roloff S, Gellermann J, et al. chronic kidney disease in adolescent and adult patients with phenylketonuria. J Inherit Metab Dis. 2013;36(5):747-756. doi:10.1007/s10545-012-9548-0.
  110. Яфарова С.Ш., Шавалиев Р.Ф., Волгина С.Я. Профилактика фенилкетонурии как пример системы превентивных мероприятий при орфанных заболеваниях // Рос вестн перинатол и педиат. 2017. №5.
  111. Huemer M, Födinger M, Bodamer OA, Mühl A, Herle M, Weigmann C, Ulmer H, Stöckler-Ipsiroglu S, Möslinger D. Total homocysteine, B-vitamins and genetic polymorphisms in patients with classical phenylketonuria. Mol Genet Metab. 2008 May;94(1):46-51. doi: 10.1016/j.ymgme.2007.12.001. Epub 2008 Jan 14. PMID: 18249021.
  112. Verduci E, Banderali G, Moretti F, Lassandro C, Cefalo G, Radaelli G, Salvatici E, Giovannini M. Diet in children with phenylketonuria and risk of cardiovascular disease: A narrative overview. Nutr Metab Cardiovasc Dis. 2016 Mar;26(3):171-7. doi: 10.1016/j.numecd.2015.10.005. Epub 2015 Nov 3. PMID: 26708644.
  113. Ugarte M, Maties M, Ugarte JL. The offspring of a phenylketonuric couple. J Ment Defic Res. 1980 Jun;24(2):119-27. doi: 10.1111/j.1365-2788.1980.tb00065.x. PMID: 7411596.
  114. Levy H. L. et al. Fetal ultrasonography in maternal PKU //Prenatal diagnosis. – 1996. – Т. 16. – №. 7. – С. 599-604.
  115. Koch R et al Neuvropatologia of a 4 mounth old infant born to a women with PKU Dev.Mtd.Child Nevrol.,2008
  116. Zeibe W.L, Matternial PKU syndrome/ Pediatr.Res.,2018
  117. Waisbren SE Chang P Neonatal nevrological assesment of offspring in maternial PKU/ J.inherit Metabolizm dis,1998
  118. Waisbren SE,Azeu. Cognitive and behavioral development in matternial PKU,Pediatrics,2003
  119. Arnold GL, Kirby R, Preston C, Blakely E. Iron and protein sufficiency and red cell indices in phenylketonuria. J Am Coll Nutr. 2001;20(1):65-70. doi:10.1080/07315724.2001.10719016.
  120. Ordooei M , Malekzadeh G, Hashemi A , Forat Yazdi M Anemia in Patients with Phenylketonuria in Yazd. Iranian Journal of Pediatric Hematology Oncology Vol2. No2.72-7.
  121. Montoya Parra GA, Singh RH, Cetinyurek-Yavuz A, Kuhn M, MacDonald A. Status of nutrients important in brain function in phenylketonuria: a systematic review and meta-analysis. Orphanet J Rare Dis. 2018 Jun 26;13(1):101.
  122. 122.     Lucock M, Yates Z, Hall K, Leeming R, Rylance G, MacDonald A, Green A. The impact of phenylketonuria on folate metabolism. Mol Genet Metab. 2002 Aug;76(4):305-12
  123. Levy HL. Phenylketonuria--1986. Pediatr Rev. 1986 Mar;7(9):269-75, https://emedicine.medscape.com/article/949470-medication#showall
  124. Irons M, Levy HL, O"Flynn ME, Stack CV, Langlais PJ, Butler IJ, Milstien S, Kaufman S. Folinic acid therapy in treatment of dihydropteridine reductase deficiency. J Pediatr. 1987 Jan;110(1):61-7
  125. Schneider A. J. Newborn Phenylalanine/Tyrosine Metabolism: Implications for Screening for Phenylketonuria //American Journal of Diseases of Children. – 1983. – Т. 137. – №. 5. – С. 427-432.
  126. Shannon G. D. et al. Preconception healthcare and congenital disorders: systematic review of the effectiveness of preconception care programs in the prevention of congenital disorders //Maternal and child health journal. – 2014. – Т. 18. – №. 6. – С. 1354-1379.
  127. Jahja R. et al. Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study //Journal of Inherited Metabolic Disease. – 2016. – Т. 39. – №. 3. – С. 355-362.
  128. Koch R. et al. The maternal phenylketonuria international study: 1984–2002 //Pediatrics. – 2003. – Т. 112. – №. Supplement 4. – С. 1523-1529.
  129. Brantley K. D., Douglas T. D., Singh R. H. One-year follow-up of B vitamin and Iron status in patients with phenylketonuria provided tetrahydrobiopterin (BH4) //Orphanet journal of rare diseases. – 2018. – Т. 13. – №. 1. – С. 1-10.
  130. Celik S. Y. et al. Clinical and electrophysiological findings in patients with phenylketonuria and epilepsy: Reflex features //Epilepsy & Behavior. – 2018. – Т. 82. – С. 46-51.
  131. Открытое несравнительное клиническое исследование III фазы по оценке частоты ответа и безопасности сапроптерина у пациентов с фенилкетонурией и гиперфенилаланинемией / Т. В. Бушуева, Л. М. Кузенкова, Т. Э. Боровик [и др.] // Вестник Российской академии медицинских наук. – 2014. – Т. 69. – № 7-8. – С. 69-77. – DOI 10.15690/vramn. v69i7-8.1111. – EDN SNHYBV.
  132. McBride KL, Pluciniczak J, Rhyand T, Bartholomew D. Phenylalanine and tyrosine measurements across gestation by tandem mass spectrometer on dried blood spot cards from normal pregnant women. Genet Med. 2019;21(8):1821-1826. doi:10.1038/s41436-018-0407-8
  133. Gudinchet F, Maeder P, Meuli RA, Deonna T, Mathieu JM. Cranial CT and MRI in malignant phenylketonuria. Pediatr Radiol. 1992;22(3):223-224. doi:10.1007/BF02012503
  134. Greeves LG, Carson DJ, McMaster D, Craig BG. Cardiac status of patients with phenylketonuria. Acta Paediatr. 1994;83(10):1100-1101. doi:10.1111/j.1651-2227. 1994.tb12995.x
  135. Kose E, Arslan N. Vitamin/mineral and micronutrient status in patients with classical phenylketonuria. Clin Nutr. 2019;38(1):197-203. doi: 10.1016/j.clnu.2018.01.034
  136. Lah M, Cook K, Gomes DA, et al. Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: Evidence from dispensing data. Mol Genet Metab Rep. 2022;33:100918. Published 2022 Sep 25. doi:10.1016/j.ymgmr.2022.100918
  137. Krämer J, Baerwald C, Heimbold C, et al. Two years of pegvaliase in Germany: Experiences and best practice recommendations. Mol Genet Metab. 2023;139(1):107564. doi:10.1016/j.ymgme.2023.107564
  138. Приказ Минздрава России от 21 апреля 2022 г. № 274н «Об утверждении Порядка оказания медицинской помощи больным с врожденными и (или) наследственными заболеваниями»
  139. Неонатальный скрининг: национальное руководство / под ред. С.И. Куцева. Москва : ГЭОТАР-Медиа, 2023. — 360 с. — (Серия «Национальные руководства»). — DOI: 10.33029/9704-7737-3-NEO-2023-1-360
  140. Ramos BCF, Aranda CS, Cardona RSB, Martins AM, Solé D, Clemens SAC, Clemens R. Vaccination strategies for people living with inborn errors of metabolism in Brazil. J Pediatr (Rio J). 2023 Mar-Apr;99 Suppl 1(Suppl 1):S70-S80. doi: 10.1016/j.jped.2022.12.001.
  141. Menni F, Chiarelli G, Sabatini C, Principi N, Esposito S. Vaccination in children with inborn errors of metabolism. Vaccine. 2012 Nov 26;30(50):7161-4. doi: 10.1016/j.vaccine.2012.10.012.
  142. Robin B. Kirby, Maternal Phenylketonuria: A New Cause for Concern, Journal of Obstetric, Gynecologic & Neonatal Nursing, Volume 28, Issue 3, 1999, Pages 227-234, ISSN 0884-2175, https://doi:10.1111/j.1552-6909.1999.tb01987.x.

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