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Journal Abstract Search
175 related items for PubMed ID: 3326735
1. Tetrahydrobiopterin biosynthetic pathway and deficiency. Niederwieser A, Curtius HC. Enzyme; 1987; 38(1-4):302-11. PubMed ID: 3326735 [Abstract] [Full Text] [Related]
5. 1H-NMR and mass spectrometric studies of tetrahydropterins. Evidence for the structure of 6-pyruvoyl tetrahydropterin, an intermediate in the biosynthesis of tetrahydrobiopterin. Ghisla S, Kuster T, Steinerstauch P, Leimbacher W, Richter WJ, Raschdorf F, Dahinden R, Curtius HC. Eur J Biochem; 1990 Feb 14; 187(3):651-6. PubMed ID: 2406138 [Abstract] [Full Text] [Related]
6. 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 14; 226(2):159-69. PubMed ID: 7923811 [Abstract] [Full Text] [Related]
7. Prenatal diagnosis of 6-pyruvoyl tetrahydropterin synthase deficiency in seven subjects. Shintaku H, Hsiao KJ, Liu TT, Imamura T, Hase Y, Chen RG, Isshiki G, Oura T. J Inherit Metab Dis; 1994 May 14; 17(1):163-6. PubMed ID: 8051934 [No Abstract] [Full Text] [Related]
13. Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase. Thöny B, Leimbacher W, Blau N, Harvie A, Heizmann CW. Am J Hum Genet; 1994 May 15; 54(5):782-92. PubMed ID: 8178819 [Abstract] [Full Text] [Related]
14. 6-Pyruvoyl tetrahydropterin synthase assay in extracts of cultured human cells using high-performance liquid chromatography with fluorescence detection of biopterin. Werner ER, Werner-Felmayer G, Fuchs D, Hausen A, Reibnegger G, Wels G, Yim JJ, Pfleiderer W, Wachter H. J Chromatogr; 1991 Sep 18; 570(1):43-50. PubMed ID: 1797835 [Abstract] [Full Text] [Related]
16. Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes. Ponzone A, Guardamagna O, Spada M, Ponzone R, Sartore M, Kierat L, Heizmann CW, Blau N. Clin Chim Acta; 1993 Jul 16; 216(1-2):63-71. PubMed ID: 8222274 [Abstract] [Full Text] [Related]