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Journal Abstract Search

206 related items for PubMed ID: 9590005

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

  • 2. [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]

  • 3. [Malignant hyperphenylalaninemia--tetrahydrobiopterin (BH4) deficiency].
    Shintaku H.
    Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):493-6. PubMed ID: 3270853
    [No Abstract] [Full Text] [Related]

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

  • 5. [Detection, differential diagnosis, and prenatal diagnosis of tetrahydrobiopterin deficiency].
    Niederwieser A, Curtius HC.
    Arch Fr Pediatr; 1987 Apr; 44 Suppl 1():661-4. PubMed ID: 2452621
    [No Abstract] [Full Text] [Related]

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

  • 7. Dystonias responding to levodopa and failure in biopterin metabolism.
    Nomura Y, Uetake K, Yukishita S, Hagiwara H, Tanaka T, Tanaka R, Hachimori K, Nishiyama N, Segawa M.
    Adv Neurol; 1998 Apr; 78():253-66. PubMed ID: 9750922
    [No Abstract] [Full Text] [Related]

  • 8. Hyperphenylalaninemia due to inherited deficiencies of tetrahydrobiopterin.
    Matalon R, Michals K, Blau N, Rouse B.
    Adv Pediatr; 1989 Apr; 36():67-89. PubMed ID: 2675577
    [No Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Hyperphenylalaninaemia caused by defects in biopterin metabolism.
    Kaufman S.
    J Inherit Metab Dis; 1985 Oct; 8 Suppl 1():20-7. PubMed ID: 3930837
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Biosynthesis and metabolism of tetrahydrobiopterin and molybdopterin.
    Nichol CA, Smith GK, Duch DS.
    Annu Rev Biochem; 1985 Nov 15; 54():729-64. PubMed ID: 2862841
    [No Abstract] [Full Text] [Related]

  • 13. 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 15; 152(8):655-61. PubMed ID: 8404969
    [Abstract] [Full Text] [Related]

  • 14. Combined phenylalanine-tetrahydrobiopterin loading test in GTP cyclohydrolase 1 deficiency.
    Ponzone A, Ferraris S, Spada M, Blau N, Piovan S, Burlina AB.
    Eur J Pediatr; 1994 Aug 15; 153(8):616. PubMed ID: 7957416
    [No Abstract] [Full Text] [Related]

  • 15. [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]

  • 16. Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue.
    Blau N, Kierat L, Matasovic A, Leimbacher W, Heizmann CW, Guardamagna O, Ponzone A.
    Clin Chim Acta; 1994 May 15; 226(2):159-69. PubMed ID: 7923811
    [Abstract] [Full Text] [Related]

  • 17. 6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.
    Demos MK, Waters PJ, Vallance HD, Lillquist Y, Makhseed N, Hyland K, Blau N, Connolly MB.
    Ann Neurol; 2005 Jul 15; 58(1):164-7. PubMed ID: 15984017
    [Abstract] [Full Text] [Related]

  • 18. Tetrahydrobiopterin deficiencies: preliminary analysis from an international survey.
    Dhondt JL.
    J Pediatr; 1984 Apr 15; 104(4):501-8. PubMed ID: 6142937
    [Abstract] [Full Text] [Related]

  • 19. Disorders of biopterin metabolism.
    Longo N.
    J Inherit Metab Dis; 2009 Jun 15; 32(3):333-42. PubMed ID: 19234759
    [Abstract] [Full Text] [Related]

  • 20. 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 15; 79(3):374-8. PubMed ID: 3822637
    [Abstract] [Full Text] [Related]

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