517 related articles for article (PubMed ID: 17408607)
41. The V388M mutation results in a kinetic variant form of phenylalanine hydroxylase.
Leandro P; Rivera I; Lechner MC; de Almeida IT; Konecki D
Mol Genet Metab; 2000 Mar; 69(3):204-12. PubMed ID: 10767175
[TBL] [Abstract][Full Text] [Related]
42. A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria.
Erlandsen H; Stevens RC
J Inherit Metab Dis; 2001 Apr; 24(2):213-30. PubMed ID: 11405341
[TBL] [Abstract][Full Text] [Related]
43. Early Screening for Tetrahydrobiopterin Responsiveness in Phenylketonuria.
Porta F; Spada M; Ponzone A
Pediatrics; 2017 Aug; 140(2):. PubMed ID: 28679641
[TBL] [Abstract][Full Text] [Related]
44. The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: evaluation of response and subsequent treatment.
Bóveda MD; Couce ML; Castiñeiras DE; Cocho JA; Pérez B; Ugarte M; Fraga JM
J Inherit Metab Dis; 2007 Oct; 30(5):812. PubMed ID: 17603758
[TBL] [Abstract][Full Text] [Related]
45. Stimulation of hepatic phenylalanine hydroxylase activity but not Pah-mRNA expression upon oral loading of tetrahydrobiopterin in normal mice.
Scavelli R; Ding Z; Blau N; Haavik J; Martínez A; Thöny B
Mol Genet Metab; 2005 Dec; 86 Suppl 1():S153-5. PubMed ID: 16290004
[TBL] [Abstract][Full Text] [Related]
46. The PAH gene, phenylketonuria, and a paradigm shift.
Scriver CR
Hum Mutat; 2007 Sep; 28(9):831-45. PubMed ID: 17443661
[TBL] [Abstract][Full Text] [Related]
47. Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.
Dobrowolski SF; Heintz C; Miller T; Ellingson C; Ellingson C; Ozer I; Gökçay G; Baykal T; Thöny B; Demirkol M; Blau N
Mol Genet Metab; 2011 Feb; 102(2):116-21. PubMed ID: 21147011
[TBL] [Abstract][Full Text] [Related]
48. 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]
49. Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.
Okano Y; Kudo S; Nishi Y; Sakaguchi T; Aso K
J Hum Genet; 2011 Apr; 56(4):306-12. PubMed ID: 21307867
[TBL] [Abstract][Full Text] [Related]
50. Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin.
Trefz FK; Scheible D; Frauendienst-Egger G; Korall H; Blau N
Mol Genet Metab; 2005 Dec; 86 Suppl 1():S75-80. PubMed ID: 16242984
[TBL] [Abstract][Full Text] [Related]
51. Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation.
Shen N; Heintz C; Thiel C; Okun JG; Hoffmann GF; Blau N
Mol Genet Metab; 2016 Mar; 117(3):328-35. PubMed ID: 26803807
[TBL] [Abstract][Full Text] [Related]
52. Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Zurflüh MR; Zschocke J; Lindner M; Feillet F; Chery C; Burlina A; Stevens RC; Thöny B; Blau N
Hum Mutat; 2008 Jan; 29(1):167-75. PubMed ID: 17935162
[TBL] [Abstract][Full Text] [Related]
53. Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.
Daniele A; Cardillo G; Pennino C; Carbone MT; Scognamiglio D; Correra A; Pignero A; Castaldo G; Salvatore F
Ann Hum Genet; 2007 Mar; 71(Pt 2):185-93. PubMed ID: 17096675
[TBL] [Abstract][Full Text] [Related]
54. 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]
55. Assessment of tetrahydrobiopterin responsiveness in Turkish hyperphenylalaninemic patients.
Yildirim S; Tokatli A; Yilmaz E; Coşkun T
Turk J Pediatr; 2007; 49(1):1-6. PubMed ID: 17479638
[TBL] [Abstract][Full Text] [Related]
56. Recombinant human phenylalanine hydroxylase: novel regulatory and structural properties.
Kowlessur D; Citron BA; Kaufman S
Arch Biochem Biophys; 1996 Sep; 333(1):85-95. PubMed ID: 8806757
[TBL] [Abstract][Full Text] [Related]
57. Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population.
Eisensmith RC; Martinez DR; Kuzmin AI; Goltsov AA; Brown A; Singh R; Elsas LJ II; Woo SL
Pediatrics; 1996 Apr; 97(4):512-6. PubMed ID: 8632937
[TBL] [Abstract][Full Text] [Related]
58. Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.
Couce ML; Bóveda MD; Fernández-Marmiesse A; Mirás A; Pérez B; Desviat LR; Fraga JM
Gene; 2013 May; 521(1):100-4. PubMed ID: 23500595
[TBL] [Abstract][Full Text] [Related]
59. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art.
Spaapen LJ; Rubio-Gozalbo ME
Mol Genet Metab; 2003 Feb; 78(2):93-9. PubMed ID: 12618080
[TBL] [Abstract][Full Text] [Related]
60. Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene.
Shintaku H; Kure S; Ohura T; Okano Y; Ohwada M; Sugiyama N; Sakura N; Yoshida I; Yoshino M; Matsubara Y; Suzuki K; Aoki K; Kitagawa T
Pediatr Res; 2004 Mar; 55(3):425-30. PubMed ID: 14681498
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
