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Journal Abstract Search

194 related items for PubMed ID: 3444720

  • 1. [Trial of indirect screening of tetrahydrobiopterin deficiency].
    Ferraris S, Guardamagna O, Bracco G, Ponzone A.
    Pediatrie; 1987; 42(7):549-55. PubMed ID: 3444720
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  • 4. Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment.
    Ponzone A, Guardamagna O, Dianzani I, Ponzone R, Ferrero GB, Spada M, Cotton RG.
    Pediatr Res; 1993 Feb; 33(2):125-8. PubMed ID: 8433887
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  • 6. Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria.
    Kaufman S, Berlow S, Summer GK, Milstien S, Schulman JD, Orloff S, Spielberg S, Pueschel S.
    N Engl J Med; 1978 Sep 28; 299(13):673-9. PubMed ID: 683251
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  • 7. Tetrahydrobiopterin and inherited hyperphenylalaninemias.
    Blau N, Thony B, Spada M, Ponzone A.
    Turk J Pediatr; 1996 Sep 28; 38(1):19-35. PubMed ID: 8819618
    [Abstract] [Full Text] [Related]

  • 8. [Malignant hyperphenylalaninemia--tetrahydrobiopterin (BH4) deficiency].
    Shintaku H.
    Tanpakushitsu Kakusan Koso; 1988 Apr 28; 33(5):493-6. PubMed ID: 3270853
    [No Abstract] [Full Text] [Related]

  • 9. 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 Apr 28; 74(1-2):172-85. PubMed ID: 11592814
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  • 10. 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 28; 32(6):726-30. PubMed ID: 1283784
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  • 11. [Differential diagnosis and therapy of various forms of hyperphenylalaninemia: facts and fiction].
    Endres W.
    Wien Klin Wochenschr; 1992 Dec 28; 104(16):503-9. PubMed ID: 1413808
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  • 12. [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 28; 22(4):438-40. PubMed ID: 16086286
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  • 13. Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: a semi-mechanistically-based, nonlinear mixed-effect modeling.
    Trefz F, Lichtenberger O, Blau N, Muntau AC, Feillet F, Bélanger-Quintana A, van Spronsen F, Munafo A.
    Mol Genet Metab; 2015 Apr 28; 114(4):564-9. PubMed ID: 25726095
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  • 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 Apr 28; 34(7 Suppl):CIX-CXX. PubMed ID: 931522
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  • 15. Hyperphenylalaninemia due to inherited deficiencies of tetrahydrobiopterin.
    Matalon R, Michals K, Blau N, Rouse B.
    Adv Pediatr; 1989 Apr 28; 36():67-89. PubMed ID: 2675577
    [No Abstract] [Full Text] [Related]

  • 16. Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria.
    Hennermann JB, Bührer C, Blau N, Vetter B, Mönch E.
    Mol Genet Metab; 2005 Dec 28; 86 Suppl 1():S86-90. PubMed ID: 16051511
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  • 17. [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 28; 43(2):128-31. PubMed ID: 19534905
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  • 18. Plasma biopterin levels and tetrahydrobiopterin responsiveness.
    Shintaku H, Fujioka H, Sawada Y, Asada M, Yamano T.
    Mol Genet Metab; 2005 Dec 28; 86 Suppl 1():S104-6. PubMed ID: 16183315
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  • 20. 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 28; 152(8):655-61. PubMed ID: 8404969
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