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Journal Abstract Search

176 related items for PubMed ID: 18058633

  • 1. Tyrosine hydroxylase deficiency presenting with a biphasic clinical course.
    Giovanniello T, Leuzzi V, Carducci C, Carducci C, Sabato ML, Artiola C, Santagata S, Pozzessere S, Antonozzi I.
    Neuropediatrics; 2007 Aug; 38(4):213-5. PubMed ID: 18058633
    [Abstract] [Full Text] [Related]

  • 2. Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.
    Hoffmann GF, Assmann B, Bräutigam C, Dionisi-Vici C, Häussler M, de Klerk JB, Naumann M, Steenbergen-Spanjers GC, Strassburg HM, Wevers RA.
    Ann Neurol; 2003 Aug; 54 Suppl 6():S56-65. PubMed ID: 12891655
    [Abstract] [Full Text] [Related]

  • 3. Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
    Willemsen MA, Verbeek MM, Kamsteeg EJ, de Rijk-van Andel JF, Aeby A, Blau N, Burlina A, Donati MA, Geurtz B, Grattan-Smith PJ, Haeussler M, Hoffmann GF, Jung H, de Klerk JB, van der Knaap MS, Kok F, Leuzzi V, de Lonlay P, Megarbane A, Monaghan H, Renier WO, Rondot P, Ryan MM, Seeger J, Smeitink JA, Steenbergen-Spanjers GC, Wassmer E, Weschke B, Wijburg FA, Wilcken B, Zafeiriou DI, Wevers RA.
    Brain; 2010 Jun; 133(Pt 6):1810-22. PubMed ID: 20430833
    [Abstract] [Full Text] [Related]

  • 4. Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections.
    Diepold K, Schütz B, Rostasy K, Wilken B, Hougaard P, Güttler F, Romstad A, Birk Møller L.
    Mov Disord; 2005 Jun; 20(6):764-7. PubMed ID: 15747353
    [Abstract] [Full Text] [Related]

  • 5. [Tyrosine hydroxylase deficiency: a case of autosomal recessive dopa-responsive dystonia].
    Tan D, Zhang Y, Ye J, Han L, Qiu W, Gu X, Zhang H.
    Zhonghua Er Ke Za Zhi; 2014 Aug; 52(8):616-9. PubMed ID: 25224241
    [Abstract] [Full Text] [Related]

  • 6. [Recessive dopa-responsive form of dystonia due to a mutation of the tyrosine hydroxylase gene].
    Rondot P, Wevers RA.
    Bull Acad Natl Med; 1999 Aug; 183(3):639-46; discussion 646-7. PubMed ID: 10437291
    [Abstract] [Full Text] [Related]

  • 7. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
    Clot F, Grabli D, Cazeneuve C, Roze E, Castelnau P, Chabrol B, Landrieu P, Nguyen K, Ponsot G, Abada M, Doummar D, Damier P, Gil R, Thobois S, Ward AJ, Hutchinson M, Toutain A, Picard F, Camuzat A, Fedirko E, Sân C, Bouteiller D, LeGuern E, Durr A, Vidailhet M, Brice A, French Dystonia Network.
    Brain; 2009 Jul; 132(Pt 7):1753-63. PubMed ID: 19491146
    [Abstract] [Full Text] [Related]

  • 8. Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations.
    Furukawa Y, Graf WD, Wong H, Shimadzu M, Kish SJ.
    Neurology; 2001 Jan 23; 56(2):260-3. PubMed ID: 11160968
    [Abstract] [Full Text] [Related]

  • 9. Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency.
    Møller LB, Romstad A, Paulsen M, Hougaard P, Ormazabal A, Pineda M, Blau N, Güttler F, Artuch R.
    Prenat Diagn; 2005 Aug 23; 25(8):671-5. PubMed ID: 16049992
    [Abstract] [Full Text] [Related]

  • 10. [Dopa-responsive dystonia: clinical, genetic, and biochemical studies].
    Furukawa Y.
    Rinsho Shinkeigaku; 2006 Jan 23; 46(1):19-34. PubMed ID: 16541791
    [Abstract] [Full Text] [Related]

  • 11. Dopa-responsive dystonia due to mild tyrosine hydroxylase deficiency.
    Furukawa Y, Kish SJ, Fahn S.
    Ann Neurol; 2004 Jan 23; 55(1):147-8. PubMed ID: 14705130
    [No Abstract] [Full Text] [Related]

  • 12. [Dopa-responsive dystonia (Segawa syndrome) with secondary skeleton deformity].
    Budrewicz SP, Góral M, Koszewicz M, Tarantowicz P, Podemski R.
    Wiad Lek; 2006 Jan 23; 59(9-10):713-5. PubMed ID: 17338136
    [Abstract] [Full Text] [Related]

  • 13. Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.
    Schiller A, Wevers RA, Steenbergen GC, Blau N, Jung HH.
    Neurology; 2004 Oct 26; 63(8):1524-6. PubMed ID: 15505183
    [Abstract] [Full Text] [Related]

  • 14. Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency.
    Korner G, Noain D, Ying M, Hole M, Flydal MI, Scherer T, Allegri G, Rassi A, Fingerhut R, Becu-Villalobos D, Pillai S, Wueest S, Konrad D, Lauber-Biason A, Baumann CR, Bindoff LA, Martinez A, Thöny B.
    Brain; 2015 Oct 26; 138(Pt 10):2948-63. PubMed ID: 26276013
    [Abstract] [Full Text] [Related]

  • 15. Tyrosine hydroxylase deficiency with severe clinical course.
    Zafeiriou DI, Willemsen MA, Verbeek MM, Vargiami E, Ververi A, Wevers R.
    Mol Genet Metab; 2009 May 26; 97(1):18-20. PubMed ID: 19282209
    [Abstract] [Full Text] [Related]

  • 16. Genetics and biochemistry of dopa-responsive dystonia: significance of striatal tyrosine hydroxylase protein loss.
    Furukawa Y.
    Adv Neurol; 2003 May 26; 91():401-10. PubMed ID: 12442699
    [Abstract] [Full Text] [Related]

  • 17. Misdiagnoses in children with dopa-responsive dystonia.
    Jan MM.
    Pediatr Neurol; 2004 Oct 26; 31(4):298-303. PubMed ID: 15464646
    [Abstract] [Full Text] [Related]

  • 18. Brain biopterin and tyrosine hydroxylase in asymptomatic dopa-responsive dystonia.
    Furukawa Y, Kapatos G, Haycock JW, Worsley J, Wong H, Kish SJ, Nygaard TG.
    Ann Neurol; 2002 May 26; 51(5):637-41. PubMed ID: 12112113
    [Abstract] [Full Text] [Related]

  • 19. Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.
    Verbeek MM, Steenbergen-Spanjers GC, Willemsen MA, Hol FA, Smeitink J, Seeger J, Grattan-Smith P, Ryan MM, Hoffmann GF, Donati MA, Blau N, Wevers RA.
    Ann Neurol; 2007 Oct 26; 62(4):422-6. PubMed ID: 17696123
    [Abstract] [Full Text] [Related]

  • 20. A novel compound heterozygous tyrosine hydroxylase mutation (p.R441P) with complex phenotype.
    Haugarvoll K, Bindoff LA.
    J Parkinsons Dis; 2011 Oct 26; 1(1):119-22. PubMed ID: 23939262
    [Abstract] [Full Text] [Related]

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