357 related articles for article (PubMed ID: 15984017)
1. 6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.
Demos MK; Waters PJ; Vallance HD; Lillquist Y; Makhseed N; Hyland K; Blau N; Connolly MB
Ann Neurol; 2005 Jul; 58(1):164-7. PubMed ID: 15984017
[TBL] [Abstract][Full Text] [Related]
2. 6-pyruvoyl tetrahydropterin synthase deficiency: a case report.
Capistrano-Estrada SB; Nyhan WL
Southeast Asian J Trop Med Public Health; 2003; 34 Suppl 3():186-8. PubMed ID: 15906733
[TBL] [Abstract][Full Text] [Related]
3. Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency.
Dudesek A; Röschinger W; Muntau AC; Seidel J; Leupold D; Thöny B; Blau N
Eur J Pediatr; 2001 May; 160(5):267-76. PubMed ID: 11388593
[TBL] [Abstract][Full Text] [Related]
4. [Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients].
Dhondt JL; Hayte JM
Ann Biol Clin (Paris); 2002; 60(2):165-71. PubMed ID: 11937441
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Atypical phenylketonuria due to biopterin deficiency. Early treatment with tetrahydrobiopterin and neurotransmitter precursors, trials of monotherapy.
Endres W; Niederwieser A; Curtius HC; Wang M; Ohrt B; Schaub J
Helv Paediatr Acta; 1982; 37(5):489-98. PubMed ID: 6761317
[TBL] [Abstract][Full Text] [Related]
7. Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China.
Ye J; Liu X; Ma X; Zhang Y; Huang X; Chen R; Gu X
Chin Med J (Engl); 2002 Feb; 115(2):217-21. PubMed ID: 11940335
[TBL] [Abstract][Full Text] [Related]
8. A case of 6-pyruvoyl-tetrahydropterin synthase deficiency demonstrates a more significant correlation of L-Dopa dosage with serum prolactin levels than CSF homovanillic acid levels.
Ogawa A; Kanazawa M; Takayanagi M; Kitani Y; Shintaku H; Kohno Y
Brain Dev; 2008 Jan; 30(1):82-5. PubMed ID: 17590551
[TBL] [Abstract][Full Text] [Related]
9. [Study on tetrahydrobiopterin deficiency in Northern Chinese population].
Wang L; Yu WM; Li XW; He C; Chang M; Shen M; Zhao SP; Fu GX; Shen S; Liu TT; Hsiao KJ
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Jun; 23(3):275-9. PubMed ID: 16767663
[TBL] [Abstract][Full Text] [Related]
10. [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]
11. 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]
12. Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency.
Lee NC; Cheng LY; Liu TT; Hsiao KJ; Chiu PC; Niu DM
Mol Genet Metab; 2006 Feb; 87(2):128-34. PubMed ID: 16364672
[TBL] [Abstract][Full Text] [Related]
13. Biopterin synthesis defect. Treatment with L-dopa and 5-hydroxytryptophan compared with therapy with a tetrahydropterin.
McInnes RR; Kaufman S; Warsh JJ; Van Loon GR; Milstien S; Kapatos G; Soldin S; Walsh P; MacGregor D; Hanley WB
J Clin Invest; 1984 Feb; 73(2):458-69. PubMed ID: 6142058
[TBL] [Abstract][Full Text] [Related]
14. Tetrahydrobiopterin loading test in hyperphenylalaninemia.
Ponzone A; Guardamagna O; Ferraris S; Ferrero GB; Dianzani I; Cotton RG
Pediatr Res; 1991 Nov; 30(5):435-8. PubMed ID: 1754298
[TBL] [Abstract][Full Text] [Related]
15. Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan.
Niu DM
Brain Dev; 2011 Nov; 33(10):847-55. PubMed ID: 21880449
[TBL] [Abstract][Full Text] [Related]
16. Long-term follow-up of tetrahydrobiopterin therapy in patients with tetrahydrobiopterin deficiency in Japan.
Shintaku H; Ohwada M
Brain Dev; 2013 May; 35(5):406-10. PubMed ID: 22832064
[TBL] [Abstract][Full Text] [Related]
17. Tetrahydrobiopterin deficiency and an international database of patients.
Blau N; Dhondt JL
Adv Exp Med Biol; 1993; 338():255-61. PubMed ID: 8304121
[No Abstract] [Full Text] [Related]
18. Maternal tetrahydrobiopterin deficiency: the course of two pregnancies and follow-up of two children in a mother with 6-pyruvoyl-tetrahydropterin synthase deficiency.
Giżewska M; Hnatyszyn G; Sagan L; Cyryłowski L; Zekanowski C; Modrzejewska M; Nestorowicz B; Kubalska J; Walczak M
J Inherit Metab Dis; 2009 Dec; 32 Suppl 1():S83-9. PubMed ID: 19322676
[TBL] [Abstract][Full Text] [Related]
19. Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese.
Liu TT; Chiang SH; Wu SJ; Hsiao KJ
Clin Chim Acta; 2001 Nov; 313(1-2):157-69. PubMed ID: 11694255
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]