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Journal Abstract Search

157 related items for PubMed ID: 10874306

  • 41. Genetically rescued tetrahydrobiopterin-depleted mice survive with hyperphenylalaninemia and region-specific monoaminergic abnormalities.
    Sumi-Ichinose C, Urano F, Shimomura A, Sato T, Ikemoto K, Shiraishi H, Senda T, Ichinose H, Nomura T.
    J Neurochem; 2005 Nov; 95(3):703-14. PubMed ID: 16135092
    [Abstract] [Full Text] [Related]

  • 42. Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.
    Bonafé L, Thöny B, Penzien JM, Czarnecki B, Blau N.
    Am J Hum Genet; 2001 Aug; 69(2):269-77. PubMed ID: 11443547
    [Abstract] [Full Text] [Related]

  • 43. A hypothesis on the biochemical mechanism of BH(4)-responsiveness in phenylalanine hydroxylase deficiency.
    Steinfeld R, Kohlschütter A, Ullrich K, Lukacs Z.
    Amino Acids; 2003 Jul; 25(1):63-8. PubMed ID: 12836060
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  • 44. Role of protein structure in variant annotation: structural insight of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency.
    Muniz JRC, Szeto NW, Frise R, Lee WH, Wang XS, Thöny B, Himmelreich N, Blau N, Hsiao KJ, Liu TT, Gileadi O, Oppermann U, Von Delft F, Yue WW, Tang NL.
    Pathology; 2019 Apr; 51(3):274-280. PubMed ID: 30853107
    [Abstract] [Full Text] [Related]

  • 45. An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia.
    Opladen T, Hoffmann GF, Blau N.
    J Inherit Metab Dis; 2012 Nov; 35(6):963-73. PubMed ID: 22729819
    [Abstract] [Full Text] [Related]

  • 46. Nuclear localization of tetrahydrobiopterin biosynthetic enzymes.
    Elzaouk L, Laufs S, Heerklotz D, Leimbacher W, Blau N, Résibois A, Thöny B.
    Biochim Biophys Acta; 2004 Jan 05; 1670(1):56-68. PubMed ID: 14729142
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  • 48. Albino (al) is a tetrahydrobiopterin (BH4)-deficient mutant of the silkworm Bombyx mori.
    Fujii T, Abe H, Kawamoto M, Katsuma S, Banno Y, Shimada T.
    Insect Biochem Mol Biol; 2013 Jul 05; 43(7):594-600. PubMed ID: 23567588
    [Abstract] [Full Text] [Related]

  • 49. [Mutations causing hereditary hyperphenylalaninemia].
    Zekanowski C, Nowacka M, Cabalska B, Sendecka E, Słowik M, Gizewska M, Filipowicz J, Mazurczak T, Bal J.
    Med Wieku Rozwoj; 1999 Jul 05; 3(1):55-66. PubMed ID: 10910639
    [Abstract] [Full Text] [Related]

  • 50. [Dopa-responsive dystonia: clinical, genetic, and biochemical studies].
    Furukawa Y.
    Rinsho Shinkeigaku; 2006 Jan 05; 46(1):19-34. PubMed ID: 16541791
    [Abstract] [Full Text] [Related]

  • 51. Tetrahydrobiopterin biosynthetic pathway and deficiency.
    Niederwieser A, Curtius HC.
    Enzyme; 1987 Jan 05; 38(1-4):302-11. PubMed ID: 3326735
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  • 53. [PTPS gene analysis and prenatal diagnosis in patients with 6-pyruvoyl-tetra hydropterin synthase deficiency].
    Liu N, Zhao DH, Li XL, Cui LX, Wu QH, Jiang M, Kong XD.
    Zhonghua Fu Chan Ke Za Zhi; 2016 Dec 25; 51(12):890-894. PubMed ID: 28057123
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  • 55. Critical role of interleukin-1beta for transcriptional regulation of endothelial 6-pyruvoyltetrahydropterin synthase.
    Franscini N, Blau N, Walter RB, Schaffner A, Schoedon G.
    Arterioscler Thromb Vasc Biol; 2003 Nov 01; 23(11):e50-3. PubMed ID: 14551150
    [Abstract] [Full Text] [Related]

  • 56. Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency.
    Brasil S, Viecelli HM, Meili D, Rassi A, Desviat LR, Pérez B, Ugarte M, Thöny B.
    Hum Mutat; 2011 Sep 01; 32(9):1019-27. PubMed ID: 21542064
    [Abstract] [Full Text] [Related]

  • 57. 6-pyruvoyl tetrahydropterin synthase deficiency: a case report.
    Capistrano-Estrada SB, Nyhan WL.
    Southeast Asian J Trop Med Public Health; 2003 Sep 01; 34 Suppl 3():186-8. PubMed ID: 15906733
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  • 59. 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 01; 32 Suppl 1():S83-9. PubMed ID: 19322676
    [Abstract] [Full Text] [Related]

  • 60. Potential therapeutic applications of tetrahydrobiopterin: from inherited hyperphenylalaninemia to mitochondrial diseases.
    Kim HK, Ha SH, Han J.
    Ann N Y Acad Sci; 2010 Jul 01; 1201():177-82. PubMed ID: 20649554
    [Abstract] [Full Text] [Related]

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