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76 related items for PubMed ID: 3265083
1. [A deficiency of dihydrobiopterin synthesis. The effects of L-dopa, 5HTP and BH4]. Fujita N, Tanaka K, Nakajima T, Miyatake T, Ohwada M. Rinsho Shinkeigaku; 1988 Apr; 28(4):376-81. PubMed ID: 3265083 [No Abstract] [Full Text] [Related]
2. 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 [Abstract] [Full Text] [Related]
3. 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 [Abstract] [Full Text] [Related]
4. Early initiation of L-dopa therapy enables stable development of executive function in tetrahydrobiopterin (BH4) deficiency. Tanaka Y, Kato M, Muramatsu T, Saito F, Sato S, Matsuo N, Shintaku H, Okano Y, Kondo H, Nukazawa T. Dev Med Child Neurol; 2007 May; 49(5):372-6. PubMed ID: 17489812 [Abstract] [Full Text] [Related]
5. 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 May; 37(5):489-98. PubMed ID: 6761317 [Abstract] [Full Text] [Related]
6. 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 [Abstract] [Full Text] [Related]
7. Effect of tetrahydrobiopterin and 5-hydroxytryptophan on hereditary progressive dystonia with marked diurnal fluctuation: a suggestion of the serotonergic system involvement. Ishida A, Takada G, Kobayashi Y, Toyoshima I, Takai K. Tohoku J Exp Med; 1988 Mar; 154(3):233-9. PubMed ID: 3259739 [Abstract] [Full Text] [Related]
8. 6-pyruvoyl tetrahydropterin synthase deficiency: a case report. Capistrano-Estrada SB, Nyhan WL. Southeast Asian J Trop Med Public Health; 2003 Mar; 34 Suppl 3():186-8. PubMed ID: 15906733 [Abstract] [Full Text] [Related]
9. Letter: L-dopa and 5-hydroxytryptophan therapy in phenylketonuria with normal phenylalanine-hydroxylase activity. Bartholomé K, Byrd DJ. Lancet; 1975 Nov 22; 2(7943):1042-3. PubMed ID: 53531 [No Abstract] [Full Text] [Related]
10. [Malignant phenylketonuria caused by biopterin synthetase deficiency. Study of neuromediator catabolites in the cerebrospinal fluid during treatment]. Malpuech G, Guyon A, Demeocq F, Piton A, Boespflug O, Vanlieferinghen P. Arch Fr Pediatr; 1984 Jan 22; 41(1):5-8. PubMed ID: 6202269 [Abstract] [Full Text] [Related]
11. Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations. Chien YH, Chiang SC, Huang A, Lin JM, Chiu YN, Chou SP, Chu SY, Wang TR, Hwu WL. J Inherit Metab Dis; 2001 Dec 22; 24(8):815-23. PubMed ID: 11916314 [Abstract] [Full Text] [Related]
12. [Serotonergic disturbance in hereditary progressive dystonia--clinical effects of tetrahydrobiopterin and 5-hydroxytryptophan]. Ishida A, Takada G, Kobayashi Y, Higashi O, Toyoshima I, Takai K. No To Hattatsu; 1988 May 22; 20(3):195-9. PubMed ID: 3260512 [No Abstract] [Full Text] [Related]
13. 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 22; 115(2):217-21. PubMed ID: 11940335 [Abstract] [Full Text] [Related]
14. Successful long term therapy of biopterin deficiency. Snyderman SE, Sansaricq C, Pulmones MT. J Inherit Metab Dis; 1987 Feb 22; 10(3):260-6. PubMed ID: 3123784 [Abstract] [Full Text] [Related]
15. [Inborn errors of catecholamine metabolism]. Suzuki T. Ryoikibetsu Shokogun Shirizu; 1998 Feb 22; (19 Pt 2):640-4. PubMed ID: 9645154 [No Abstract] [Full Text] [Related]
16. Dihydropteridine reductase deficiency: levodopa's long-term effectiveness without dyskinesia. Sedel F, Ribeiro MJ, Remy P, Blau N, Saudubray JM, Agid Y. Neurology; 2006 Dec 26; 67(12):2243-5. PubMed ID: 17190955 [Abstract] [Full Text] [Related]
17. 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 26; 58(1):164-7. PubMed ID: 15984017 [Abstract] [Full Text] [Related]
18. Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. Furukawa Y, Kish SJ, Bebin EM, Jacobson RD, Fryburg JS, Wilson WG, Shimadzu M, Hyland K, Trugman JM. Ann Neurol; 1998 Jul 26; 44(1):10-6. PubMed ID: 9667588 [Abstract] [Full Text] [Related]
19. [Diagnosis of deficiency in cofactor of phenylalanine hydroxylase: a metabolic emergency]. Meyer M, Malpuech G, Geneste J, Palcoux JB, Francannet C, Vanlieferinghen P. J Genet Hum; 1989 Dec 26; 37(4-5):315-9. PubMed ID: 2517561 [Abstract] [Full Text] [Related]
20. [Studies on neonatal screening, clinical and gene analysis for tetrahydrobiopterin deficiency in Southern Chinese]. Ye J, Liu X, Ma X, Huang X, Zhang Y, Gu X, Chen R. Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2001 Apr 26; 18(2):92-5. PubMed ID: 11295124 [Abstract] [Full Text] [Related] Page: [Next] [New Search]