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    Results: 1 to 20 of 25

    1.

    Sapropterin dihydrochloride for phenylketonuria.

    Somaraju UR, Merrin M.

    Cochrane Database Syst Rev. 2012 Dec 12;12:CD008005. doi: 10.1002/14651858.CD008005.pub3. Review.

    PMID:
    23235653
    [PubMed - indexed for MEDLINE]
    2.

    50 years ago in the Journal of Pediatrics: identification of heterozygotes with phenylketonuria on basis of blood tyrosine responses.

    Ross LF.

    J Pediatr. 2012 Sep;161(3):487. doi: 10.1016/j.jpeds.2012.04.060. No abstract available.

    PMID:
    22916975
    [PubMed - indexed for MEDLINE]
    3.

    50 years ago in the Journal of Pediatrics: mass screening for phenylketonuria.

    Ross LF.

    J Pediatr. 2012 Sep;161(3):433. doi: 10.1016/j.jpeds.2012.04.059. No abstract available.

    PMID:
    22916974
    [PubMed - indexed for MEDLINE]
    4.

    Nutritional treatment for inborn errors of metabolism: indications, regulations, and availability of medical foods and dietary supplements using phenylketonuria as an example.

    Camp KM, Lloyd-Puryear MA, Huntington KL.

    Mol Genet Metab. 2012 Sep;107(1-2):3-9. doi: 10.1016/j.ymgme.2012.07.005. Epub 2012 Jul 16. Review.

    PMID:
    22854513
    [PubMed - indexed for MEDLINE]
    5.

    High prevalence of overweight and obesity in females with phenylketonuria.

    Burrage LC, McConnell J, Haesler R, O'Riordan MA, Sutton VR, Kerr DS, McCandless SE.

    Mol Genet Metab. 2012 Sep;107(1-2):43-8. doi: 10.1016/j.ymgme.2012.07.006. Epub 2012 Jul 16.

    PMID:
    22846370
    [PubMed - indexed for MEDLINE]
    6.

    Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.

    Quirk ME, Dobrowolski SF, Nelson BE, Coffee B, Singh RH.

    Mol Genet Metab. 2012 Sep;107(1-2):31-6. doi: 10.1016/j.ymgme.2012.07.008. Epub 2012 Jul 20.

    PMID:
    22841515
    [PubMed - indexed for MEDLINE]
    7.

    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.

    van Calcar SC, Ney DM.

    J Acad Nutr Diet. 2012 Aug;112(8):1201-10. doi: 10.1016/j.jand.2012.05.004. Review.

    PMID:
    22818728
    [PubMed - indexed for MEDLINE]
    8.

    Low prevalence of p.G352fsdelG mutation in phenylketonuria patients from Morocco.

    Lamzouri A, Ratbi I, Laarabi FZ, Barkat A, Sefiani A.

    Genet Test Mol Biomarkers. 2012 Aug;16(8):996-8. doi: 10.1089/gtmb.2012.0011. Epub 2012 Jul 18.

    PMID:
    22808937
    [PubMed - indexed for MEDLINE]
    9.

    Mutation spectrum of the PAH gene in the PKU patients from Khorasan Razavi province of Iran.

    Hamzehloei T, Hosseini SA, Vakili R, Mojarad M.

    Gene. 2012 Sep 10;506(1):230-2. doi: 10.1016/j.gene.2012.06.043. Epub 2012 Jul 2.

    PMID:
    22763404
    [PubMed - indexed for MEDLINE]
    10.

    Phenylalanine assembly into toxic fibrils suggests amyloid etiology in phenylketonuria.

    Adler-Abramovich L, Vaks L, Carny O, Trudler D, Magno A, Caflisch A, Frenkel D, Gazit E.

    Nat Chem Biol. 2012 Aug;8(8):701-6. doi: 10.1038/nchembio.1002. Epub 2012 Jun 17.

    PMID:
    22706200
    [PubMed - indexed for MEDLINE]
    11.

    Breast-feeding success among infants with phenylketonuria.

    Banta-Wright SA, Shelton KC, Lowe ND, Knafl KA, Houck GM.

    J Pediatr Nurs. 2012 Aug;27(4):319-27. doi: 10.1016/j.pedn.2011.03.015. Epub 2011 May 31.

    PMID:
    22703678
    [PubMed - indexed for MEDLINE]
    12.

    Depressive symptoms in adolescents with early and continuously treated phenylketonuria: associations with phenylalanine and tyrosine levels.

    Sharman R, Sullivan K, Young RM, McGill J.

    Gene. 2012 Aug 10;504(2):288-91. doi: 10.1016/j.gene.2012.05.007. Epub 2012 May 15.

    PMID:
    22609065
    [PubMed - indexed for MEDLINE]
    13.

    Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis.

    Zimmermann M, Jacobs P, Fingerhut R, Torresani T, Thöny B, Blau N, Baumgartner MR, Rohrbach M.

    Mol Genet Metab. 2012 Jul;106(3):264-8. doi: 10.1016/j.ymgme.2012.04.016. Epub 2012 Apr 25.

    PMID:
    22607939
    [PubMed - indexed for MEDLINE]
    14.

    Recommendations for the use of sapropterin in phenylketonuria.

    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.

    Mol Genet Metab. 2012 Jul;106(3):269-76. doi: 10.1016/j.ymgme.2012.04.004. Epub 2012 Apr 13.

    PMID:
    22575621
    [PubMed - indexed for MEDLINE]
    15.

    Generation n + 1: Projected numbers of babies born to women with PKU compared to babies with PKU in the United States in 2009.

    Resta R.

    Am J Med Genet A. 2012 May;158A(5):1118-23. doi: 10.1002/ajmg.a.35312. Epub 2012 Apr 11.

    PMID:
    22495780
    [PubMed - indexed for MEDLINE]
    16.

    Unrestricted consumption of fruits and vegetables in phenylketonuria: no major impact on metabolic control.

    Rohde C, Mütze U, Weigel JF, Ceglarek U, Thiery J, Kiess W, Beblo S.

    Eur J Clin Nutr. 2012 May;66(5):633-8. doi: 10.1038/ejcn.2011.205. Epub 2012 Feb 8.

    PMID:
    22318648
    [PubMed - indexed for MEDLINE]
    17.

    Evolving patient selection and clinical benefit criteria for sapropterin dihydrochloride (Kuvan®) treatment of PKU patients.

    Gordon P, Thomas JA, Suter R, Jurecki E.

    Mol Genet Metab. 2012 Apr;105(4):672-6. doi: 10.1016/j.ymgme.2011.12.023. Epub 2012 Jan 8.

    PMID:
    22310224
    [PubMed - indexed for MEDLINE]
    18.

    The use of parenteral nutrition for the management of PKU patient undergoing chemotherapy for lymphoma: a case report.

    Salvarinova-Zivkovic R, Hartnett C, Sinclair G, Dix D, Horvath G, Lillquist Y, Stockler-Ipsiroglu S.

    Mol Genet Metab. 2012 Apr;105(4):571-4. doi: 10.1016/j.ymgme.2012.01.007. Epub 2012 Jan 16.

    PMID:
    22305856
    [PubMed - indexed for MEDLINE]
    19.

    Relationships between lumbar bone mineral density and biochemical parameters in phenylketonuria patients.

    de Groot MJ, Hoeksma M, van Rijn M, Slart RH, van Spronsen FJ.

    Mol Genet Metab. 2012 Apr;105(4):566-70. doi: 10.1016/j.ymgme.2012.01.006. Epub 2012 Jan 16.

    PMID:
    22300845
    [PubMed - indexed for MEDLINE]
    20.

    Living with phenylketonuria from the point of view of children, adolescents, and young adults: a qualitative study.

    Di Ciommo V, Forcella E, Cotugno G.

    J Dev Behav Pediatr. 2012 Apr;33(3):229-35. doi: 10.1097/DBP.0b013e3182460d8a.

    PMID:
    22249384
    [PubMed - indexed for MEDLINE]

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