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Journal Abstract Search

441 related items for PubMed ID: 11937441

  • 1. [Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients].
    Dhondt JL, Hayte JM.
    Ann Biol Clin (Paris); 2002; 60(2):165-71. PubMed ID: 11937441
    [Abstract] [Full Text] [Related]

  • 2. Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency.
    Dhondt JL.
    J Inherit Metab Dis; 2010 Oct; 33(Suppl 2):S219-23. PubMed ID: 20458544
    [Abstract] [Full Text] [Related]

  • 3. 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; 86 Suppl 1():S96-103. PubMed ID: 16275037
    [Abstract] [Full Text] [Related]

  • 4. Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenylalaninaemic patients: 15-years experience.
    Dhondt JL.
    J Inherit Metab Dis; 1991 Dec; 14(2):117-27. PubMed ID: 1886401
    [Abstract] [Full Text] [Related]

  • 5. [Measurement of dihydropteridine reductase activity in dried blood eluates: physiological and pathological implications].
    Dhondt JL.
    Ann Biol Clin (Paris); 1992 Dec; 50(9):653-8. PubMed ID: 1298171
    [Abstract] [Full Text] [Related]

  • 6. [Disorders of tetrahydrobiopterin homeostasis].
    Shintaku H, Asada M, Isshiki G, Sawada Y.
    Ryoikibetsu Shokogun Shirizu; 1998 Dec; (18 Pt 1):125-9. PubMed ID: 9590005
    [No Abstract] [Full Text] [Related]

  • 7. 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; 79(3):374-8. PubMed ID: 3822637
    [Abstract] [Full Text] [Related]

  • 8. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.
    Thöny B, Blau N.
    Hum Mutat; 2006 Sep; 27(9):870-8. PubMed ID: 16917893
    [Abstract] [Full Text] [Related]

  • 9. Tetrahydrobiopterin and inherited hyperphenylalaninemias.
    Blau N, Thony B, Spada M, Ponzone A.
    Turk J Pediatr; 1996 Sep; 38(1):19-35. PubMed ID: 8819618
    [Abstract] [Full Text] [Related]

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

  • 11. [Hyperphenylalaninemia in 1981. A diagnostic approach (author's transl)].
    Dhondt JL, Farriaux JP.
    Arch Fr Pediatr; 1981 Oct; 38(8):573-8. PubMed ID: 7316669
    [Abstract] [Full Text] [Related]

  • 12. An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia.
    Opladen T, Hoffmann GF, Blau N.
    J Inherit Metab Dis; 2012 Nov; 35(6):963-73. PubMed ID: 22729819
    [Abstract] [Full Text] [Related]

  • 13. 6-pyruvoyl tetrahydropterin synthase deficiency: a case report.
    Capistrano-Estrada SB, Nyhan WL.
    Southeast Asian J Trop Med Public Health; 2003 Nov; 34 Suppl 3():186-8. PubMed ID: 15906733
    [Abstract] [Full Text] [Related]

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  • 15. [The investigation of differential diagnostic development and incidence of tetrahydrobiopterin deficiency].
    Ye J, Qiu WJ, Han LS, Zhou JD, Gao XL, Gu XF.
    Zhonghua Yu Fang Yi Xue Za Zhi; 2009 Feb; 43(2):128-31. PubMed ID: 19534905
    [Abstract] [Full Text] [Related]

  • 16. Tetrahydrobiopterin deficiency and an international database of patients.
    Blau N, Dhondt JL.
    Adv Exp Med Biol; 1993 Feb; 338():255-61. PubMed ID: 8304121
    [No Abstract] [Full Text] [Related]

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  • 18. [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 Feb; 34(7 Suppl):CIX-CXX. PubMed ID: 931522
    [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 Feb; 41(2):231-7. PubMed ID: 10770663
    [Abstract] [Full Text] [Related]

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