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Journal Abstract Search

267 related items for PubMed ID: 49470

  • 1. New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction.
    Smith I, Clayton BE, Wolff OH.
    Lancet; 1975 May 17; 1(7916):1108-11. PubMed ID: 49470
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  • 2. Kinetics of phenylalanine disappearance after intravenous load in phenylketonuria and its genetic variants.
    Rey F, Blandin-Savoja F, Rey J.
    Pediatr Res; 1979 Jan 17; 13(1):21-5. PubMed ID: 431997
    [No Abstract] [Full Text] [Related]

  • 3. Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria.
    Kaufman S, Berlow S, Summer GK, Milstien S, Schulman JD, Orloff S, Spielberg S, Pueschel S.
    N Engl J Med; 1978 Sep 28; 299(13):673-9. PubMed ID: 683251
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  • 4. [Hyperphenylalaninaemia with normal phenylalanine-hydroxylase activity and a deficiency of tetrahydrobiopterin and dihydropteridine reductase].
    Rey F, Harpey JP, Leeming RJ, Blair JA, Aicardi J, Rey J.
    Arch Fr Pediatr; 1977 Sep 28; 34(7 Suppl):CIX-CXX. PubMed ID: 931522
    [Abstract] [Full Text] [Related]

  • 5. Review of current practices in management of inherited disorders of amino acid metabolism in Western Europe.
    Wachtel U.
    Hum Nutr Appl Nutr; 1986 Sep 28; 40 Suppl 1():61-9. PubMed ID: 3528074
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  • 6. Biopterin derivatives in normal and phenylketonuric patients after oral loads of L-phenylalanine, L-tyrosine, and L-tryptophan.
    Leeming RJ, Blair JA, Green A, Raine DN.
    Arch Dis Child; 1976 Oct 28; 51(10):771-7. PubMed ID: 1008581
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  • 7. [Comparative effects of different inhibitors of phenylalanine hydroxylase and dihydropteridine reductase. In vivo and in vitro study in rats].
    Charpentier C, Domange C, Wolf M, Barthon F, Laggoune B, Lemonnier A.
    Arch Fr Pediatr; 1978 Dec 28; 35(10 Suppl):93-101. PubMed ID: 571268
    [Abstract] [Full Text] [Related]

  • 8. Novel aspects of metabolism and function of tetrahydrobiopterin.
    Kaufman S.
    J Nutr Sci Vitaminol (Tokyo); 1992 Dec 28; Spec No():492-6. PubMed ID: 1297795
    [No Abstract] [Full Text] [Related]

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  • 10. Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cells.
    Milstien S, Holtzman NA, O'Flynn ME, Thomas GH, Butler IJ, Kaufman S.
    J Pediatr; 1976 Nov 28; 89(5):763-6. PubMed ID: 978323
    [Abstract] [Full Text] [Related]

  • 11. From the Clinical Conference St. Louis Children's Hospital. Phenylketonuria. Diagnostic and therapeutic dilemma.
    Kahn LI.
    Clin Pediatr (Phila); 1970 May 28; 9(5):263-71. PubMed ID: 5445064
    [No Abstract] [Full Text] [Related]

  • 12. Two mutations of dihydropteridine reductase deficiency.
    Ponzone A, Guardamagna O, Ferraris S, Bracco G, Niederwieser A, Cotton RG.
    Arch Dis Child; 1988 Feb 28; 63(2):154-7. PubMed ID: 2894818
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  • 14. Phenylketonuria due to a deficiency of dihydropteridine reductase.
    Kaufman S, Holtzman NA, Milstien S, Butler LJ, Krumholz A.
    N Engl J Med; 1975 Oct 16; 293(16):785-90. PubMed ID: 1160969
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  • 18. Neopterin and biopterin levels in patients with atypical forms of phenylketonuria.
    Nixon JC, Lee CL, Milstien S, Kaufman S, Bartholomé K.
    J Neurochem; 1980 Oct 16; 35(4):898-904. PubMed ID: 7452296
    [Abstract] [Full Text] [Related]

  • 19. Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency.
    Nardecchia F, Chiarotti F, Carducci C, Santagata S, Valentini G, Angeloni A, Blau N, Leuzzi V.
    Eur J Pediatr; 2017 Jul 16; 176(7):917-924. PubMed ID: 28540433
    [Abstract] [Full Text] [Related]

  • 20. Long-term treatment with tetrahydrobiopterin in phenylketonuria: treatment strategies and prediction of long-term responders.
    Hennermann JB, Roloff S, Gebauer C, Vetter B, von Arnim-Baas A, Mönch E.
    Mol Genet Metab; 2012 Nov 16; 107(3):294-301. PubMed ID: 23062575
    [Abstract] [Full Text] [Related]

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