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.
22. A new variant of biopterin deficiency. Blaskovics M; Giudici TA N Engl J Med; 1988 Dec; 319(24):1611-2. PubMed ID: 3200274 [No Abstract] [Full Text] [Related]
23. The dietary management of inborn errors of metabolism. Collins JE; Leonard JV Hum Nutr Appl Nutr; 1985 Aug; 39(4):255-72. PubMed ID: 3900002 [TBL] [Abstract][Full Text] [Related]
26. Possible high frequency of tetrahydrobiopterin deficiency in south Brazil. Jardim LB; Giugliani R; Coelho JC; Dutra-Filho CS; Blau N J Inherit Metab Dis; 1994; 17(2):223-9. PubMed ID: 7967477 [TBL] [Abstract][Full Text] [Related]
27. 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]
28. [Hyperphenylalaninemia in the neonatal period]. Spahr A Rev Med Suisse Romande; 1973 Sep; 93(9):679-86. PubMed ID: 4769047 [No Abstract] [Full Text] [Related]
29. [Limitations of the classification and nomenclature of hyperphenylalaninemia]. Wolff O; Smith I; Beasley M Arch Fr Pediatr; 1987; 44 Suppl 1():635-8. PubMed ID: 3449008 [No Abstract] [Full Text] [Related]
30. A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia. Ashida A; Owada M; Hatakeyama K Genomics; 1994 Nov; 24(2):408-10. PubMed ID: 7698774 [No Abstract] [Full Text] [Related]
31. Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype. Lindner M; Haas D; Mayatepek E; Zschocke J; Burgard P Mol Genet Metab; 2001 May; 73(1):104-6. PubMed ID: 11350190 [TBL] [Abstract][Full Text] [Related]
32. Immune function in children with classical phenylketonuria and tetrahydrobiopterin deficiencies. Karagoz T; Coskun T; Ozalp I; Ozkaya E; Ersoy F Indian Pediatr; 2003 Sep; 40(9):822-33. PubMed ID: 14530542 [TBL] [Abstract][Full Text] [Related]
33. [Screening for 6-pyruvoyl-tetrahydrobiopterin synthase (PTPS) deficiency: clinical analysis of 9 patients with PTPS deficiency]. Ye J; Liu X; Huang X Zhonghua Yi Xue Za Zhi; 2000 Jul; 80(7):513-5. PubMed ID: 11798810 [TBL] [Abstract][Full Text] [Related]
37. [Clinical study of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency in southern and northern Chinese patients]. Yang L; Zhang ZX; Ye J; Zhou ZS; Shen M; Han LS; Qiu W; Yu WM; Gu XF Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Jun; 24(3):310-3. PubMed ID: 17557244 [TBL] [Abstract][Full Text] [Related]
38. Hyperphenylalaninaemia due to impaired dihydrobiopterin biosynthesis: leukocyte function and effect of tetrahydrobiopterin therapy. Fukuda K; Tanaka T; Hyodo S; Kobayashi Y; Usui T J Inherit Metab Dis; 1985; 8(2):49-52. PubMed ID: 3939529 [TBL] [Abstract][Full Text] [Related]
39. [The investigation of differential diagnostic development and incidence of tetrahydrobiopterin deficiency]. Ye J; Qiu WJ; Han LS; Zhou JD; Gao XL; Gu XF Zhonghua Yu Fang Yi Xue Za Zhi; 2009 Feb; 43(2):128-31. PubMed ID: 19534905 [TBL] [Abstract][Full Text] [Related]
40. Screening for biopterin defects in newborns with phenylketonuria and other hyperphenylalaninemias. Matalon R; Michals K; Lee CL; Nixon JC Ann Clin Lab Sci; 1982; 12(5):411-4. PubMed ID: 6753726 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]