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Journal Abstract Search

132 related items for PubMed ID: 6422143

  • 1. Differential diagnosis of variant forms of hyperphenylalaninaemia by urinary pterins.
    Hayakawa H, Narisawa K, Arai N, Tada K, Matsuo N, Tanaka T, Naritomi K.
    J Inherit Metab Dis; 1983; 6(3):123-4. PubMed ID: 6422143
    [No Abstract] [Full Text] [Related]

  • 2. Pterin metabolism in normal subjects and hyperphenylalaninaemic patients.
    Dhondt JL, Farriaux JP, Largilliere C, Dautrevaux M, Ardouin P.
    J Inherit Metab Dis; 1981; 4(2):47-8. PubMed ID: 6790841
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  • 3. Diagnosis of variants of hyperphenylalaninemia by determination of pterins in urine.
    Dhondt JL, Largilliere C, Ardouin P, Farriaux JP, Dautrevaux M.
    Clin Chim Acta; 1981 Mar 05; 110(2-3):205-14. PubMed ID: 7014037
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  • 6. 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 05; 176(7):917-924. PubMed ID: 28540433
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  • 7. Screening for tetrahydrobiopterin deficiency in newborns using dried urine on filter paper.
    Blau N, Kierat L, Heizmann CW, Endres W, Giudici T, Wang M.
    J Inherit Metab Dis; 1992 Jul 05; 15(3):402-4. PubMed ID: 1405479
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  • 8. 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 05; 35(4):898-904. PubMed ID: 7452296
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  • 10. Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by measurement of oxidized and reduced pterins in urine.
    Milstien S, Kaufman S, Summer GK.
    Pediatrics; 1980 Apr 05; 65(4):806-10. PubMed ID: 7367090
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  • 13. Unsolved problems in diagnosis and therapy of hyperphenylalaninemia caused by defects in tetrahydrobiopterin metabolism.
    Kaufman S.
    J Pediatr; 1986 Oct 05; 109(4):572-8. PubMed ID: 3489828
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  • 15. Issues for consideration in dihydropteridine reductase (DHPR) deficiency: a variant form of hyperphenylalaninaemia.
    Pogson D.
    J Intellect Disabil Res; 1997 Jun 05; 41 ( Pt 3)():208-14. PubMed ID: 9219069
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  • 16. Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants.
    Leeming RJ, Barford PA, Blair JA, Smith I.
    Arch Dis Child; 1984 Jan 05; 59(1):58-61. PubMed ID: 6696496
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  • 17. Transient hyperphenylalaninaemia with a high neopterin to biopterin ratio in urine.
    Takahashi T, Kodama S, Nishio H, Takumi T, Matsuo T, Hase Y, Sawada Y.
    J Inherit Metab Dis; 1985 Jan 05; 8(3):105-8. PubMed ID: 3939585
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  • 18. Use of tetrahydropterins in the treatment of hyperphenylalaninemia due to defective synthesis of tetrahydrobiopterin: evidence that peripherally administered tetrahydropterins enter the brain.
    Kaufman S, Kapatos G, McInnes RR, Schulman JD, Rizzo WB.
    Pediatrics; 1982 Sep 05; 70(3):376-80. PubMed ID: 7110811
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  • 19. Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: loading tests with pterin derivatives.
    Blau N, Kierat L, Curtius HC, Blaskovics M, Giudici T.
    J Inherit Metab Dis; 1992 Sep 05; 15(3):409-12. PubMed ID: 1405481
    [No Abstract] [Full Text] [Related]

  • 20. Altered urinary excretion of pteridines in neoplastic disease. Determination of biopterin, neopterin, xanthopterin, and pterin.
    Rokos H, Rokos K, Frisius H, Kirstaedter HJ.
    Clin Chim Acta; 1980 Aug 04; 105(2):275-86. PubMed ID: 7398095
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