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Journal Abstract Search

125 related items for PubMed ID: 1437828

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

  • 2. Atypical phenylketonuria caused by 7, 8-dihydrobiopterin synthetase deficiency.
    Niederwieser A, Curtius HC, Bettoni O, Bieri J, Schircks B, Viscontini M, Schaub J.
    Lancet; 1979 Jan 20; 1(8108):131-3. PubMed ID: 84153
    [Abstract] [Full Text] [Related]

  • 3. Screening for biopterin defects in newborns with phenylketonuria and other hyperphenylalaninemias.
    Matalon R, Michals K, Lee CL, Nixon JC.
    Ann Clin Lab Sci; 1982 Jan 20; 12(5):411-4. PubMed ID: 6753726
    [No Abstract] [Full Text] [Related]

  • 4. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.
    Blau N, Bonafé L, Thöny B.
    Mol Genet Metab; 2001 Jan 20; 74(1-2):172-85. PubMed ID: 11592814
    [Abstract] [Full Text] [Related]

  • 5. Tetrahydrobiopterin loading test in hyperphenylalaninemia.
    Ponzone A, Guardamagna O, Ferraris S, Ferrero GB, Dianzani I, Cotton RG.
    Pediatr Res; 1991 Nov 20; 30(5):435-8. PubMed ID: 1754298
    [Abstract] [Full Text] [Related]

  • 6. [Malignant phenylketonuria caused by biopterin synthetase deficiency. Study of neuromediator catabolites in the cerebrospinal fluid during treatment].
    Malpuech G, Guyon A, Demeocq F, Piton A, Boespflug O, Vanlieferinghen P.
    Arch Fr Pediatr; 1984 Jan 20; 41(1):5-8. PubMed ID: 6202269
    [Abstract] [Full Text] [Related]

  • 7. Hyperphenylalaninemia in a premature infant with heterozygosity for phenylketonuria.
    Hennermann JB, Loui A, Weber A, Mönch E.
    J Perinat Med; 2004 Jan 20; 32(4):383-5. PubMed ID: 15346830
    [Abstract] [Full Text] [Related]

  • 8. Guanosine triphosphate cyclohydrolase I deficiency: early diagnosis by routine urine pteridine screening.
    Naylor EW, Ennis D, Davidson AG, Wong LT, Applegarth DA, Niederwieser A.
    Pediatrics; 1987 Mar 20; 79(3):374-8. PubMed ID: 3822637
    [Abstract] [Full Text] [Related]

  • 9. [Biopterin synthesis defects: complete deficiencies (reductase and synthetase)].
    Harpey JP.
    Arch Fr Pediatr; 1983 Mar 20; 40 Suppl 1():231-5. PubMed ID: 6349573
    [No Abstract] [Full Text] [Related]

  • 10. Response of 6-pyruvoyl-tetrahydropterin synthase deficiency to tetrahydrobiopterin.
    al Aqeel A, Ozand PT, Gascon GG, Hughes H, Reynolds CT, Subramanyam SB.
    J Child Neurol; 1992 Apr 20; 7 Suppl():S26-30. PubMed ID: 1588012
    [Abstract] [Full Text] [Related]

  • 11.
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    [No Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia.
    Feillet F, Chery C, Namour F, Kimmoun A, Favre E, Lorentz E, Battaglia-Hsu SF, Guéant JL.
    Early Hum Dev; 2008 Sep 05; 84(9):561-7. PubMed ID: 18321666
    [Abstract] [Full Text] [Related]

  • 14. Diagnosis and management of "malignant hyperphenylalaninemia".
    Cederbaum SD.
    N Engl J Med; 1979 Aug 23; 301(8):441-2. PubMed ID: 460359
    [No Abstract] [Full Text] [Related]

  • 15. [Differential diagnosis of increased phenylalanine blood level in infancy. Results of the German collaborative study on phenylketonuria (PKU)/hyperphenylalaninemia (HPA)].
    Schmidt H, Lutz P, Batzler U.
    Monatsschr Kinderheilkd; 1989 Feb 23; 137(2):86-92. PubMed ID: 2654616
    [Abstract] [Full Text] [Related]

  • 16. A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia.
    Ashida A, Owada M, Hatakeyama K.
    Genomics; 1994 Nov 15; 24(2):408-10. PubMed ID: 7698774
    [No Abstract] [Full Text] [Related]

  • 17. [Tetrahydrobiopterin loading test in differential diagnosis among hyperphenylalaninemia patients].
    Zhang ZX, Ye J, Qiu WJ, Han LS, Gu XF.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Aug 15; 22(4):438-40. PubMed ID: 16086286
    [Abstract] [Full Text] [Related]

  • 18. Pterin metabolism in normal subjects and hyperphenylalaninaemic patients.
    Dhondt JL, Farriaux JP, Largilliere C, Dautrevaux M, Ardouin P.
    J Inherit Metab Dis; 1981 Aug 15; 4(2):47-8. PubMed ID: 6790841
    [Abstract] [Full Text] [Related]

  • 19. Guanosine triphosphate cyclohydrolase I deficiency: a rare cause of hyperphenylalaninemia.
    Coşkun T, Karagöz T, Kalkanoğlu S, Tokatli A, Ozalp I, Thöny B, Blau N.
    Turk J Pediatr; 1999 Aug 15; 41(2):231-7. PubMed ID: 10770663
    [Abstract] [Full Text] [Related]

  • 20. [Trial of indirect screening of tetrahydrobiopterin deficiency].
    Ferraris S, Guardamagna O, Bracco G, Ponzone A.
    Pediatrie; 1987 Aug 15; 42(7):549-55. PubMed ID: 3444720
    [Abstract] [Full Text] [Related]

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