| General References | - Krumdieck CL, Fukushima K, Fukushima T, Shiota T, Butterworth CE Jr: A long-term study of the excretion of folate and pterins in a human subject after ingestion of 14C folic acid, with observations on the effect of diphenylhydantoin administration. Am J Clin Nutr. 1978 Jan;31(1):88-93. doi: 10.1093/ajcn/31.1.88. [PubMed:413430 ]
- Dhondt JL, Tilmont P, Ringel J, Farriaux JP: Pterins analysis in amniotic fluid for the prenatal diagnosis of GTP cyclohydrolase deficiency. J Inherit Metab Dis. 1990;13(6):879-82. doi: 10.1007/BF01800213. [PubMed:2079836 ]
- Katoh S, Sueoka T, Matsuura S, Sugimoto T: Biopterin and neopterin in human saliva. Life Sci. 1989;45(26):2561-8. doi: 10.1016/0024-3205(89)90240-3. [PubMed:2615555 ]
- Beckman JS, Parks DA, Pearson JD, Marshall PA, Freeman BA: A sensitive fluorometric assay for measuring xanthine dehydrogenase and oxidase in tissues. Free Radic Biol Med. 1989;6(6):607-15. doi: 10.1016/0891-5849(89)90068-3. [PubMed:2753392 ]
- Dhondt JL, Cotton RG, Danks DM: Liver enzyme activities in hyperphenylalaninaemia due to a defective synthesis of tetrahydrobiopterin. J Inherit Metab Dis. 1985;8(2):47-8. doi: 10.1007/BF01801660. [PubMed:3939528 ]
- Gordon JH, Perry KO: Pre- and postsynaptic neurochemical alterations following estrogen-induced striatal dopamine hypo- and hypersensitivity. Brain Res Bull. 1983 Apr;10(4):425-8. doi: 10.1016/0361-9230(83)90137-5. [PubMed:6134572 ]
- Kaufman S, Kapatos G, Rizzo WB, Schulman JD, Tamarkin L, Van Loon GR: Tetrahydropterin therapy for hyperphenylalaninemia caused by defective synthesis of tetrahydrobiopterin. Ann Neurol. 1983 Sep;14(3):308-15. doi: 10.1002/ana.410140309. [PubMed:6139056 ]
- Niederwieser A, Blau N, Wang M, Joller P, Atares M, Cardesa-Garcia J: GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia. Eur J Pediatr. 1984 Feb;141(4):208-14. doi: 10.1007/BF00572762. [PubMed:6734669 ]
- Blau N, Kierat L, Matasovic A, Leimbacher W, Heizmann CW, Guardamagna O, Ponzone A: Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue. Clin Chim Acta. 1994 May;226(2):159-69. doi: 10.1016/0009-8981(94)90213-5. [PubMed:7923811 ]
- Stupperich E: Recent advances in elucidation of biological corrinoid functions. FEMS Microbiol Rev. 1993 Nov;12(4):349-65. doi: 10.1111/j.1574-6976.1993.tb00027.x. [PubMed:8268006 ]
- Yamamoto T, Moriwaki Y, Takahashi S, Tsutsumi Z, Yamakita J, Nasako Y, Hiroishi K, Higashino K: Determination of human plasma xanthine oxidase activity by high-performance liquid chromatography. J Chromatogr B Biomed Appl. 1996 Jun 7;681(2):395-400. doi: 10.1016/0378-4347(96)00071-0. [PubMed:8811453 ]
- Han F, Huynh BH, Shi H, Lin B, Ma Y: Pteridine analysis in urine by capillary electrophoresis using laser-induced fluorescence detection. Anal Chem. 1999 Apr 1;71(7):1265-9. doi: 10.1021/ac981218v. [PubMed:10204031 ]
- Bonafe L, Thony B, Leimbacher W, Kierat L, Blau N: Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts. Clin Chem. 2001 Mar;47(3):477-85. [PubMed:11238300 ]
- Bonafe L, Thony B, Penzien JM, Czarnecki B, Blau N: Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet. 2001 Aug;69(2):269-77. doi: 10.1086/321970. Epub 2001 Jul 6. [PubMed:11443547 ]
- Rokos H, Beazley WD, Schallreuter KU: Oxidative stress in vitiligo: photo-oxidation of pterins produces H(2)O(2) and pterin-6-carboxylic acid. Biochem Biophys Res Commun. 2002 Apr 12;292(4):805-11. doi: 10.1006/bbrc.2002.6727. [PubMed:11944885 ]
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