These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
26. New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Lagler FB; Gersting SW; Zsifkovits C; Steinbacher A; Eichinger A; Danecka MK; Staudigl M; Fingerhut R; Glossmann H; Muntau AC Biochem Pharmacol; 2010 Nov; 80(10):1563-71. PubMed ID: 20705059 [TBL] [Abstract][Full Text] [Related]
27. 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]
28. Atypical phenylketonuria with "dihydrobiopterin synthetase" deficiency: absence of phosphate-eliminating enzyme activity demonstrated in liver. Niederwieser A; Leimbacher W; Curtius HC; Ponzone A; Rey F; Leupold D Eur J Pediatr; 1985 May; 144(1):13-6. PubMed ID: 2990933 [TBL] [Abstract][Full Text] [Related]
29. Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria. Fiege B; Blau N J Pediatr; 2007 Jun; 150(6):627-30. PubMed ID: 17517248 [TBL] [Abstract][Full Text] [Related]
30. Screening for tetrahydrobiopterin deficiency in newborns using dried urine on filter paper. Blau N; Kierat L; Heizmann CW; Endres W; Giudici T; Wang M J Inherit Metab Dis; 1992; 15(3):402-4. PubMed ID: 1405479 [No Abstract] [Full Text] [Related]
31. Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience. Mitchell JJ; Wilcken B; Alexander I; Ellaway C; O'Grady H; Wiley V; Earl J; Christodoulou J Mol Genet Metab; 2005 Dec; 86 Suppl 1():S81-5. PubMed ID: 16091307 [TBL] [Abstract][Full Text] [Related]
32. Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper. Zurflüh MR; Giovannini M; Fiori L; Fiege B; Gokdemir Y; Baykal T; Kierat L; Gärtner KH; Thöny B; Blau N Mol Genet Metab; 2005 Dec; 86 Suppl 1():S96-103. PubMed ID: 16275037 [TBL] [Abstract][Full Text] [Related]
33. Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency. Roze E; Vidailhet M; Blau N; Moller LB; Doummar D; de Villemeur TB; Roubergue A Mov Disord; 2006 Feb; 21(2):263-6. PubMed ID: 16161143 [TBL] [Abstract][Full Text] [Related]
34. [Screening and diagnosis of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency with tetrahydrobiopterin loading test]. Zhang ZX; Ye J; Qiu WJ; Han LS; Gu XF Zhonghua Er Ke Za Zhi; 2005 May; 43(5):335-9. PubMed ID: 15924746 [TBL] [Abstract][Full Text] [Related]
35. [Atypical form of phenylketonuria caused by lack of dihydrobiopterin synthetase activity]. Słowik M; Mańkowski T Pol Tyg Lek; 1992 Mar 2-9; 47(9-10):236-7. PubMed ID: 1437828 [TBL] [Abstract][Full Text] [Related]
36. 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]
38. [In-vivo studies on the activation possibility of the phenylalanine hydroxylase system in hyperphenylalaninemia through treatment with pterins]. Grimm U; Knapp A; Haufe F Acta Biol Med Ger; 1976; 35(5):675-8. PubMed ID: 988698 [No Abstract] [Full Text] [Related]
39. The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Blau N; Erlandsen H Mol Genet Metab; 2004 Jun; 82(2):101-11. PubMed ID: 15171997 [TBL] [Abstract][Full Text] [Related]