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3. [Hyperphenylalaninemia on account of biopterin deficiency. The phenylalanine hydroxylase complex and presentation of a patient with cofactor deficiency]. Beck B Ugeskr Laeger; 1983 Nov; 145(48):3725-7. PubMed ID: 6665886 [No Abstract] [Full Text] [Related]
4. [Biogenic amines and hyperphenylalaninemia (author's transl)]. Tada K; Narisawa K Tanpakushitsu Kakusan Koso; 1981 Aug; 26(11):1765-71. PubMed ID: 7029642 [No Abstract] [Full Text] [Related]
5. 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]
6. Protein deficiency in PKU. N Engl J Med; 1979 Jan; 300(4):198-9. PubMed ID: 759851 [No Abstract] [Full Text] [Related]
7. [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]
8. Novel aspects of metabolism and function of tetrahydrobiopterin. Kaufman S J Nutr Sci Vitaminol (Tokyo); 1992; Spec No():492-6. PubMed ID: 1297795 [No Abstract] [Full Text] [Related]
10. Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants. Leeming RJ; Barford PA; Blair JA; Smith I Arch Dis Child; 1984 Jan; 59(1):58-61. PubMed ID: 6696496 [TBL] [Abstract][Full Text] [Related]
11. Atypical phenylketonuria with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro. Bartholomé K; Byrd DJ; Kaufman S; Milstien S Pediatrics; 1977 May; 59(5):757-61. PubMed ID: 300866 [TBL] [Abstract][Full Text] [Related]
12. 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]
14. [Comparative effects of different inhibitors of phenylalanine hydroxylase and dihydropteridine reductase. In vivo and in vitro study in rats]. Charpentier C; Domange C; Wolf M; Barthon F; Laggoune B; Lemonnier A Arch Fr Pediatr; 1978 Dec; 35(10 Suppl):93-101. PubMed ID: 571268 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. Contrasting effects of N5-substituted tetrahydrobiopterin derivatives on phenylalanine hydroxylase, dihydropteridine reductase and nitric oxide synthase. Werner ER; Habisch HJ; Gorren AC; Schmidt K; Canevari L; Werner-Felmayer G; Mayer B Biochem J; 2000 Jun; 348 Pt 3(Pt 3):579-83. PubMed ID: 10839989 [TBL] [Abstract][Full Text] [Related]
17. Expression of human phenylalanine hydroxylase activity in T lymphocytes of classical phenylketonuria children by retroviral-mediated gene transfer. Lin CM; Tan Y; Lee YM; Chang CC; Hsiao KJ J Inherit Metab Dis; 1997 Nov; 20(6):742-54. PubMed ID: 9427141 [TBL] [Abstract][Full Text] [Related]
18. Phenylketonuria due to a deficiency of dihydropteridine reductase. Kaufman S; Holtzman NA; Milstien S; Butler LJ; Krumholz A N Engl J Med; 1975 Oct; 293(16):785-90. PubMed ID: 1160969 [TBL] [Abstract][Full Text] [Related]
19. Kinetics of phenylalanine disappearance after intravenous load in phenylketonuria and its genetic variants. Rey F; Blandin-Savoja F; Rey J Pediatr Res; 1979 Jan; 13(1):21-5. PubMed ID: 431997 [No Abstract] [Full Text] [Related]
20. Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenylalaninaemic patients: 15-years experience. Dhondt JL J Inherit Metab Dis; 1991; 14(2):117-27. PubMed ID: 1886401 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]