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Journal Abstract Search

225 related items for PubMed ID: 23465864

  • 1. Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria.
    Hartnett C, Salvarinova-Zivkovic R, Yap-Todos E, Cheng B, Giezen A, Horvath G, Lillquist Y, Vallance H, Stockler-Ipsiroglu S.
    Mol Genet Metab; 2013 Apr; 108(4):255-8. PubMed ID: 23465864
    [Abstract] [Full Text] [Related]

  • 2. Stability of blood phenylalanine levels and IQ in children with phenylketonuria.
    Anastasoaie V, Kurzius L, Forbes P, Waisbren S.
    Mol Genet Metab; 2008 Apr; 95(1-2):17-20. PubMed ID: 18703366
    [Abstract] [Full Text] [Related]

  • 3. Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study.
    Keil S, Anjema K, van Spronsen FJ, Lambruschini N, Burlina A, Bélanger-Quintana A, Couce ML, Feillet F, Cerone R, Lotz-Havla AS, Muntau AC, Bosch AM, Meli CA, Billette de Villemeur T, Kern I, Riva E, Giovannini M, Damaj L, Leuzzi V, Blau N.
    Pediatrics; 2013 Jun; 131(6):e1881-8. PubMed ID: 23690520
    [Abstract] [Full Text] [Related]

  • 4. Individualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochloride.
    Stockler-Ipsiroglu S, Yuskiv N, Salvarinova R, Apatean D, Ho G, Cheng B, Giezen A, Lillquist Y, Ueda K.
    Mol Genet Metab; 2015 Mar; 114(3):409-14. PubMed ID: 25497838
    [Abstract] [Full Text] [Related]

  • 5. Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations.
    Kanufre V, Almeida MF, Barbosa CS, Carmona C, Bandeira A, Martins E, Rocha S, Guimas A, Ribeiro R, MacDonald A, Pinto A, Rocha JC.
    Nutrients; 2021 Sep 06; 13(9):. PubMed ID: 34578995
    [Abstract] [Full Text] [Related]

  • 6. Adherence to clinic recommendations among patients with phenylketonuria in the United States.
    Jurecki ER, Cederbaum S, Kopesky J, Perry K, Rohr F, Sanchez-Valle A, Viau KS, Sheinin MY, Cohen-Pfeffer JL.
    Mol Genet Metab; 2017 Mar 06; 120(3):190-197. PubMed ID: 28162992
    [Abstract] [Full Text] [Related]

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  • 8. Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?
    Pinto A, Ahring K, Almeida MF, Ashmore C, Bélanger-Quintana A, Burlina A, Coşkun T, Daly A, van Dam E, Dursun A, Evans S, Feillet F, Giżewska M, Gökmen-Özel H, Hickson M, Hoekstra Y, Ilgaz F, Jackson R, Leśniak A, Loro C, Malicka K, Patalan M, Rocha JC, Sivri S, Rodenburg I, van Spronsen F, Strączek K, Tokatli A, MacDonald A.
    Nutrients; 2024 Jun 28; 16(13):. PubMed ID: 38999811
    [Abstract] [Full Text] [Related]

  • 9. Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study.
    Jahja R, Huijbregts SC, de Sonneville LM, van der Meere JJ, Bosch AM, Hollak CE, Rubio-Gozalbo ME, Brouwers MC, Hofstede FC, de Vries MC, Janssen MC, van der Ploeg AT, Langendonk JG, van Spronsen FJ.
    Mol Genet Metab; 2013 Jun 28; 110 Suppl():S57-61. PubMed ID: 24183792
    [Abstract] [Full Text] [Related]

  • 10. The challenges of managing coexistent disorders with phenylketonuria: 30 cases.
    MacDonald A, Ahring K, Almeida MF, Belanger-Quintana A, Blau N, Burlina A, Cleary M, Coskum T, Dokoupil K, Evans S, Feillet F, Giżewska M, Gokmen Ozel H, Lotz-Havla AS, Kamieńska E, Maillot F, Lammardo AM, Muntau AC, Puchwein-Schwepcke A, Robert M, Rocha JC, Santra S, Skeath R, Strączek K, Trefz FK, van Dam E, van Rijn M, van Spronsen F, Vijay S.
    Mol Genet Metab; 2015 Dec 28; 116(4):242-51. PubMed ID: 26498184
    [Abstract] [Full Text] [Related]

  • 11. Blood phenylalanine control in phenylketonuria: a survey of 10 European centres.
    Ahring K, Bélanger-Quintana A, Dokoupil K, Gokmen-Ozel H, Lammardo AM, MacDonald A, Motzfeldt K, Nowacka M, Robert M, van Rijn M.
    Eur J Clin Nutr; 2011 Feb 28; 65(2):275-8. PubMed ID: 21119696
    [Abstract] [Full Text] [Related]

  • 12. Sapropterin therapy increases stability of blood phenylalanine levels in patients with BH4-responsive phenylketonuria (PKU).
    Burton BK, Bausell H, Katz R, Laduca H, Sullivan C.
    Mol Genet Metab; 2010 Feb 28; 101(2-3):110-4. PubMed ID: 20638313
    [Abstract] [Full Text] [Related]

  • 13. Retrospective, observational data collection of the treatment of phenylketonuria in the UK, and associated clinical and health outcomes.
    Macdonald A, Nanuwa K, Parkes L, Nathan M, Chauhan D.
    Curr Med Res Opin; 2011 Jun 28; 27(6):1211-22. PubMed ID: 21504301
    [Abstract] [Full Text] [Related]

  • 14. Inhibition of prepotent responding and attentional flexibility in treated phenylketonuria.
    Huijbregts S, de Sonneville L, Licht R, Sergeant J, van Spronsen F.
    Dev Neuropsychol; 2002 Jun 28; 22(2):481-99. PubMed ID: 12537335
    [Abstract] [Full Text] [Related]

  • 15. Evidence that DNA damage is associated to phenylalanine blood levels in leukocytes from phenylketonuric patients.
    Sitta A, Manfredini V, Biasi L, Treméa R, Schwartz IV, Wajner M, Vargas CR.
    Mutat Res; 2009 Jun 28; 679(1-2):13-6. PubMed ID: 19665577
    [Abstract] [Full Text] [Related]

  • 16. Outcomes beyond phenylalanine: an international perspective.
    Feillet F, MacDonald A, Hartung Perron D, Burton B.
    Mol Genet Metab; 2010 Jun 28; 99 Suppl 1():S79-85. PubMed ID: 20123476
    [Abstract] [Full Text] [Related]

  • 17. Response of patients with phenylketonuria in the US to tetrahydrobiopterin.
    Matalon R, Michals-Matalon K, Koch R, Grady J, Tyring S, Stevens RC.
    Mol Genet Metab; 2005 Dec 28; 86 Suppl 1():S17-21. PubMed ID: 16143554
    [Abstract] [Full Text] [Related]

  • 18. Diurnal variations in blood phenylalanine of PKU infants under different feeding regimes.
    van Rijn M, Hoeksma M, Sauer PJ, Modderman P, Reijngoud DJ, van Spronsen FJ.
    Mol Genet Metab; 2011 Dec 28; 104 Suppl():S68-72. PubMed ID: 21982628
    [Abstract] [Full Text] [Related]

  • 19. Management of phenylketonuria in Europe: survey results from 19 countries.
    Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen F, European PKU centers.
    Mol Genet Metab; 2010 Feb 28; 99(2):109-15. PubMed ID: 19800826
    [Abstract] [Full Text] [Related]

  • 20. Does maternal knowledge and parent education affect blood phenylalanine control in phenylketonuria?
    Macdonald A, Davies P, Daly A, Hopkins V, Hall SK, Asplin D, Hendriksz C, Chakrapani A.
    J Hum Nutr Diet; 2008 Aug 28; 21(4):351-8. PubMed ID: 18721402
    [Abstract] [Full Text] [Related]

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