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3. Atypical phenylketonuria with defective biopterin metabolism. Monotherapy with tetrahydrobiopterin or sepiapterin, screening and study of biosynthesis in man. Niederwieser A; Curtius HC; Wang M; Leupold D Eur J Pediatr; 1982 Mar; 138(2):110-2. PubMed ID: 7094929 [TBL] [Abstract][Full Text] [Related]
4. Neopterin and biopterin levels in patients with atypical forms of phenylketonuria. Nixon JC; Lee CL; Milstien S; Kaufman S; Bartholomé K J Neurochem; 1980 Oct; 35(4):898-904. PubMed ID: 7452296 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficiencies. Blau N; de Klerk JB; Thöny B; Heizmann CW; Kierat L; Smeitink JA; Duran M Biochem Mol Med; 1996 Aug; 58(2):199-203. PubMed ID: 8812740 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
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. Biopterin, neopterin and tyrosine responses to combined oral phenylalanine and tetrahydrobiopterin loading tests in two normal children and in a girl with partial biopterin deficiency. Lykkelund C; Lou HC; Rasmussen V; Güttler F; Niederwieser A J Inherit Metab Dis; 1985; 8 Suppl 2():95-6. PubMed ID: 3930874 [No Abstract] [Full Text] [Related]
17. Successful long term therapy of biopterin deficiency. Snyderman SE; Sansaricq C; Pulmones MT J Inherit Metab Dis; 1987; 10(3):260-6. PubMed ID: 3123784 [TBL] [Abstract][Full Text] [Related]
19. Dihydrobiopterin synthesis defect: an adult with diurnal fluctuation of symptoms. Tanaka K; Yoneda M; Nakajima T; Miyatake T; Owada M Neurology; 1987 Mar; 37(3):519-22. PubMed ID: 2434882 [TBL] [Abstract][Full Text] [Related]
20. Biopterin cofactor biosynthesis: GTP cyclohydrolase, neopterin and biopterin in tissues and body fluids of mammalian species. Duch DS; Bowers SW; Woolf JH; Nichol CA Life Sci; 1984 Oct; 35(18):1895-901. PubMed ID: 6492998 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]