303 related articles for article (PubMed ID: 1357201)
1. [The metabolic basis of the hyperphenylalaninemias and tyrosinemia].
Shintaku H
Nihon Rinsho; 1992 Jul; 50(7):1542-7. PubMed ID: 1357201
[TBL] [Abstract][Full Text] [Related]
2. Disorders of tetrahydrobiopterin metabolism and their treatment.
Shintaku H
Curr Drug Metab; 2002 Apr; 3(2):123-31. PubMed ID: 12003346
[TBL] [Abstract][Full Text] [Related]
3. Tetrahydrobiopterin and inherited hyperphenylalaninemias.
Blau N; Thony B; Spada M; Ponzone A
Turk J Pediatr; 1996; 38(1):19-35. PubMed ID: 8819618
[TBL] [Abstract][Full Text] [Related]
4. Enzymology of the phenylalanine-hydroxylating system.
Kaufman S
Enzyme; 1987; 38(1-4):286-95. PubMed ID: 3326734
[TBL] [Abstract][Full Text] [Related]
5. Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia.
Thöny B; Ding Z; Martínez A
FEBS Lett; 2004 Nov; 577(3):507-11. PubMed ID: 15556637
[TBL] [Abstract][Full Text] [Related]
6. Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency.
Ponzone A; Porta F; Mussa A; Alluto A; Ferraris S; Spada M
Metabolism; 2010 May; 59(5):645-52. PubMed ID: 19913839
[TBL] [Abstract][Full Text] [Related]
7. [Malignant hyperphenylalaninemia--tetrahydrobiopterin (BH4) deficiency].
Shintaku H
Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):493-6. PubMed ID: 3270853
[No Abstract] [Full Text] [Related]
8. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.
Blau N; Bonafé L; Thöny B
Mol Genet Metab; 2001; 74(1-2):172-85. PubMed ID: 11592814
[TBL] [Abstract][Full Text] [Related]
9. Disorders of biopterin metabolism.
Longo N
J Inherit Metab Dis; 2009 Jun; 32(3):333-42. PubMed ID: 19234759
[TBL] [Abstract][Full Text] [Related]
10. [Biopterin and child neurologic disease].
Shintaku H
No To Hattatsu; 2009 Jan; 41(1):5-10. PubMed ID: 19172809
[TBL] [Abstract][Full Text] [Related]
11. Hereditary tyrosinemia type I--an overview.
Kvittingen EA
Scand J Clin Lab Invest Suppl; 1986; 184():27-34. PubMed ID: 3296130
[TBL] [Abstract][Full Text] [Related]
12. Sapropterin dihydrochloride, 6-R-L-erythro-5,6,7,8-tetrahydrobiopterin, in the treatment of phenylketonuria.
Michals-Matalon K
Expert Opin Investig Drugs; 2008 Feb; 17(2):245-51. PubMed ID: 18230057
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Enzyme defect in a case of tyrosinemia type I, acute form.
Furukawa N; Kinugasa A; Seo T; Ishii T; Ota T; Machida Y; Inoue F; Imashuku S; Kusunoki T; Takamatsu T
Pediatr Res; 1984 May; 18(5):463-6. PubMed ID: 6145143
[TBL] [Abstract][Full Text] [Related]
15. [Screening for tetrahydrobiopterin metabolic disorders and related gene analysis among the patients with motor disturbance and mental retardation].
Ye J; Liu XQ; Qiu WJ; Han LS; Zhou JD; Zhang YF; Gu XF
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Apr; 24(2):210-2. PubMed ID: 17407085
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test.
Ponzone A; Guardamagna O; Spada M; Ferraris S; Ponzone R; Kierat L; Blau N
Eur J Pediatr; 1993 Aug; 152(8):655-61. PubMed ID: 8404969
[TBL] [Abstract][Full Text] [Related]
18. Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients.
Fiori L; Fiege B; Riva E; Giovannini M
Mol Genet Metab; 2005 Dec; 86 Suppl 1():S67-74. PubMed ID: 16198137
[TBL] [Abstract][Full Text] [Related]
19. Hyperphenylalaninaemia caused by defects in biopterin metabolism.
Kaufman S
J Inherit Metab Dis; 1985; 8 Suppl 1():20-7. PubMed ID: 3930837
[TBL] [Abstract][Full Text] [Related]
20. Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study.
Fiege B; Bonafé L; Ballhausen D; Baumgartner M; Thöny B; Meili D; Fiori L; Giovannini M; Blau N
Mol Genet Metab; 2005 Dec; 86 Suppl 1():S91-5. PubMed ID: 16290003
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]