BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

313 related articles for article (PubMed ID: 6150460)

  • 1. Biopterin synthesis defects: problems in diagnosis.
    Hoganson G; Berlow S; Kaufman S; Milstien S; Schuett V; Matalon R; Naylor E; Seifert W
    Pediatrics; 1984 Dec; 74(6):1004-11. PubMed ID: 6150460
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Biopterin synthesis defect. Treatment with L-dopa and 5-hydroxytryptophan compared with therapy with a tetrahydropterin.
    McInnes RR; Kaufman S; Warsh JJ; Van Loon GR; Milstien S; Kapatos G; Soldin S; Walsh P; MacGregor D; Hanley WB
    J Clin Invest; 1984 Feb; 73(2):458-69. PubMed ID: 6142058
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Malignant phenylketonuria due to defective synthesis of dihydrobiopterin.
    Cohen BE; Szeinberg A; Quint J; Normand M; Blonder J; Peled I
    Isr J Med Sci; 1985 Jun; 21(6):520-5. PubMed ID: 3874852
    [TBL] [Abstract][Full Text] [Related]  

  • 4. GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.
    Niederwieser A; Blau N; Wang M; Joller P; Atarés M; Cardesa-Garcia J
    Eur J Pediatr; 1984 Feb; 141(4):208-14. PubMed ID: 6734669
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Use of tetrahydropterins in the treatment of hyperphenylalaninemia due to defective synthesis of tetrahydrobiopterin: evidence that peripherally administered tetrahydropterins enter the brain.
    Kaufman S; Kapatos G; McInnes RR; Schulman JD; Rizzo WB
    Pediatrics; 1982 Sep; 70(3):376-80. PubMed ID: 7110811
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Combined tetrahydrobiopterin-phenylalanine loading test in the detection of partially defective biopterin synthesis.
    Güttler F; Lou H; Lykkelund C; Niederwieser A
    Eur J Pediatr; 1984 Jun; 142(2):126-9. PubMed ID: 6468427
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Tetrahydropterin therapy for hyperphenylalaninemia caused by defective synthesis of tetrahydrobiopterin.
    Kaufman S; Kapatos G; Rizzo WB; Schulman JD; Tamarkin L; Van Loon GR
    Ann Neurol; 1983 Sep; 14(3):308-15. PubMed ID: 6139056
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Dihydrobiopterin biosynthesis deficiency.
    Dhondt JL; Leroux B; Farriaux JP; Largilliere C; Leeming RJ
    Eur J Pediatr; 1983 Dec; 141(2):92-5. PubMed ID: 6662148
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 7 Suppl():S26-30. PubMed ID: 1588012
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China.
    Ye J; Liu X; Ma X; Zhang Y; Huang X; Chen R; Gu X
    Chin Med J (Engl); 2002 Feb; 115(2):217-21. PubMed ID: 11940335
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 41(2):231-7. PubMed ID: 10770663
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase deficiency.
    Dhondt JL; Guibaud P; Rolland MO; Dorche C; Andre S; Forzy G; Hayte JM
    Eur J Pediatr; 1988 Feb; 147(2):153-7. PubMed ID: 3366132
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 299(13):673-9. PubMed ID: 683251
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Plasma biopterin levels and tetrahydrobiopterin responsiveness.
    Shintaku H; Fujioka H; Sawada Y; Asada M; Yamano T
    Mol Genet Metab; 2005 Dec; 86 Suppl 1():S104-6. PubMed ID: 16183315
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [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; 34(7 Suppl):CIX-CXX. PubMed ID: 931522
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency.
    Nardecchia F; Chiarotti F; Carducci C; Santagata S; Valentini G; Angeloni A; Blau N; Leuzzi V
    Eur J Pediatr; 2017 Jul; 176(7):917-924. PubMed ID: 28540433
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Nitric oxide accelerates the degradation of tetrahydrobiopterin but not total neopterin in cerebrospinal fluid; potential implications for the assessment of tetrahydrobiopterin metabolism.
    Lam AA; Heales SJ
    Ann Clin Biochem; 2007 Jul; 44(Pt 4):394-6. PubMed ID: 17594789
    [TBL] [Abstract][Full Text] [Related]  

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

  • 20. Transient hyperphenylalaninaemia with a high neopterin to biopterin ratio in urine.
    Takahashi T; Kodama S; Nishio H; Takumi T; Matsuo T; Hase Y; Sawada Y
    J Inherit Metab Dis; 1985; 8(3):105-8. PubMed ID: 3939585
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.