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Journal Abstract Search

198 related items for PubMed ID: 7014037

  • 1. 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
    [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 Mar 05; 4(2):47-8. PubMed ID: 6790841
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. [Development of the biosynthesis and excretion of pterins in phenylketonuria and its variants].
    Curtius HC, Niederwieser A.
    Arch Fr Pediatr; 1983 Apr 05; 40 Suppl 1():227-30. PubMed ID: 6349572
    [No Abstract] [Full Text] [Related]

  • 5. Excretion of pterins in phenylketonuria and phenylketonuria variants.
    Niederwieser A, Curtius HC, Gitzelmann R, Otten A, Baerlocher K, Blehovà B, Berlow S, Gröbe H, Rey F, Schaub J, Scheibenreiter S, Schmidt H, Viscontini M.
    Helv Paediatr Acta; 1980 Sep 05; 35(4):335-42. PubMed ID: 7005193
    [Abstract] [Full Text] [Related]

  • 6. Urinary dihydroxanthopterin in the diagnosis of malignant hyperphenylalaninemia and phenylketonuria.
    Schlesinger P, Watson BM, Cotton RG, Danks DM.
    Clin Chim Acta; 1979 Mar 01; 92(2):187-95. PubMed ID: 487572
    [Abstract] [Full Text] [Related]

  • 7. 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 01; 35(4):898-904. PubMed ID: 7452296
    [Abstract] [Full Text] [Related]

  • 8. Differential diagnosis of tetrahydrobiopterin deficiency.
    Niederwieser A, Ponzone A, Curtius HC.
    J Inherit Metab Dis; 1985 Oct 01; 8 Suppl 1():34-8. PubMed ID: 3930839
    [Abstract] [Full Text] [Related]

  • 9. [Biopterin synthesis defects: complete deficiencies (reductase and synthetase)].
    Harpey JP.
    Arch Fr Pediatr; 1983 Oct 01; 40 Suppl 1():231-5. PubMed ID: 6349573
    [No Abstract] [Full Text] [Related]

  • 10. Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.
    Zurflüh MR, Giovannini M, Fiori L, Fiege B, Gokdemir Y, Baykal T, Kierat L, Gärtner KH, Thöny B, Blau N.
    Mol Genet Metab; 2005 Dec 01; 86 Suppl 1():S96-103. PubMed ID: 16275037
    [Abstract] [Full Text] [Related]

  • 11. 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 Dec 01; 6(3):123-4. PubMed ID: 6422143
    [No Abstract] [Full Text] [Related]

  • 12. Tetrahydrobiopterin deficiencies: preliminary analysis from an international survey.
    Dhondt JL.
    J Pediatr; 1984 Apr 01; 104(4):501-8. PubMed ID: 6142937
    [Abstract] [Full Text] [Related]

  • 13. Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes.
    Ponzone A, Guardamagna O, Spada M, Ponzone R, Sartore M, Kierat L, Heizmann CW, Blau N.
    Clin Chim Acta; 1993 Jul 16; 216(1-2):63-71. PubMed ID: 8222274
    [Abstract] [Full Text] [Related]

  • 14. [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 Jul 16; 34(7 Suppl):CIX-CXX. PubMed ID: 931522
    [Abstract] [Full Text] [Related]

  • 15. Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test.
    Ponzone A, Guardamagna O, Spada M, Ferraris S, Ponzone R, Kierat L, Blau N.
    Eur J Pediatr; 1993 Aug 16; 152(8):655-61. PubMed ID: 8404969
    [Abstract] [Full Text] [Related]

  • 16. Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection.
    Blau N, Heizmann CW, Sperl W, Korenke GC, Hoffmann GF, Smooker PM, Cotton RG.
    Pediatr Res; 1992 Dec 16; 32(6):726-30. PubMed ID: 1283784
    [Abstract] [Full Text] [Related]

  • 17. Dihydroxanthopterinuria in phenylketonuria and lethal hyperphenylalaninemia patients.
    Watson BM, Schlesinger P, Cotton RG.
    Clin Chim Acta; 1977 Aug 01; 78(3):417-23. PubMed ID: 884867
    [Abstract] [Full Text] [Related]

  • 18. Screening for biopterin defects in newborns with phenylketonuria and other hyperphenylalaninemias.
    Matalon R, Michals K, Lee CL, Nixon JC.
    Ann Clin Lab Sci; 1982 Aug 01; 12(5):411-4. PubMed ID: 6753726
    [No Abstract] [Full Text] [Related]

  • 19. [Atypical form of phenylketonuria caused by lack of dihydrobiopterin synthetase activity].
    Słowik M, Mańkowski T.
    Pol Tyg Lek; 1982 Aug 01; 47(9-10):236-7. PubMed ID: 1437828
    [Abstract] [Full Text] [Related]

  • 20. Hyperphenylalaninaemia due to dihydropteridine reductase deficiency.
    Gröbe H, Bartholome K, Milstien S, Kaufman S.
    Eur J Pediatr; 1978 Sep 08; 129(2):93-8. PubMed ID: 28230
    [Abstract] [Full Text] [Related]

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