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Journal Abstract Search

383 related items for PubMed ID: 18567514

  • 1. Aromatic L-amino acid decarboxylase deficiency in Taiwan.
    Lee HF, Tsai CR, Chi CS, Chang TM, Lee HJ.
    Eur J Paediatr Neurol; 2009 Mar; 13(2):135-40. PubMed ID: 18567514
    [Abstract] [Full Text] [Related]

  • 2. A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition.
    Kojima K, Anzai R, Ohba C, Goto T, Miyauchi A, Thöny B, Saitsu H, Matsumoto N, Osaka H, Yamagata T.
    Brain Dev; 2016 Nov; 38(10):959-963. PubMed ID: 27371992
    [Abstract] [Full Text] [Related]

  • 3. Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.
    Brun L, Ngu LH, Keng WT, Ch'ng GS, Choy YS, Hwu WL, Lee WT, Willemsen MA, Verbeek MM, Wassenberg T, Régal L, Orcesi S, Tonduti D, Accorsi P, Testard H, Abdenur JE, Tay S, Allen GF, Heales S, Kern I, Kato M, Burlina A, Manegold C, Hoffmann GF, Blau N.
    Neurology; 2010 Jul 06; 75(1):64-71. PubMed ID: 20505134
    [Abstract] [Full Text] [Related]

  • 4. Unusually mild phenotype of AADC deficiency in 2 siblings.
    Tay SK, Poh KS, Hyland K, Pang YW, Ong HT, Low PS, Goh DL.
    Mol Genet Metab; 2007 Aug 06; 91(4):374-8. PubMed ID: 17533144
    [Abstract] [Full Text] [Related]

  • 5. Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies.
    Fiumara A, Bräutigam C, Hyland K, Sharma R, Lagae L, Stoltenborg B, Hoffmann GF, Jaeken J, Wevers RA.
    Neuropediatrics; 2002 Aug 06; 33(4):203-8. PubMed ID: 12368991
    [Abstract] [Full Text] [Related]

  • 6. The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China.
    Wen Y, Wang J, Zhang Q, Chen Y, Bao X.
    J Hum Genet; 2020 Sep 06; 65(9):759-769. PubMed ID: 32409695
    [Abstract] [Full Text] [Related]

  • 7. Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis.
    Pons R, Ford B, Chiriboga CA, Clayton PT, Hinton V, Hyland K, Sharma R, De Vivo DC.
    Neurology; 2004 Apr 13; 62(7):1058-65. PubMed ID: 15079002
    [Abstract] [Full Text] [Related]

  • 8. Preimplantation and prenatal genetic diagnosis of aromatic L-amino acid decarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reaction.
    Kuo SJ, Ma GC, Chang SP, Wu HH, Chen CP, Chang TM, Lin WH, Wu SH, Lee MH, Hwu WL, Chen M.
    Taiwan J Obstet Gynecol; 2011 Dec 13; 50(4):468-73. PubMed ID: 22212319
    [Abstract] [Full Text] [Related]

  • 9. Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene.
    Lee NC, Lee YM, Chen PW, Byrne BJ, Hwu WL.
    Hum Mol Genet; 2016 Dec 01; 25(23):5142-5147. PubMed ID: 27658936
    [Abstract] [Full Text] [Related]

  • 10. Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis.
    Abdenur JE, Abeling N, Specola N, Jorge L, Schenone AB, van Cruchten AC, Chamoles NA.
    Mol Genet Metab; 2006 Jan 01; 87(1):48-53. PubMed ID: 16288991
    [Abstract] [Full Text] [Related]

  • 11. A novel DDC gene deletion mutation in two Chinese mainland siblings with aromatic l-amino acid decarboxylase deficiency.
    Dai L, Ding C, Fang F.
    Brain Dev; 2019 Feb 01; 41(2):205-209. PubMed ID: 30144970
    [Abstract] [Full Text] [Related]

  • 12. Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.
    Himmelreich N, Montioli R, Bertoldi M, Carducci C, Leuzzi V, Gemperle C, Berner T, Hyland K, Thöny B, Hoffmann GF, Voltattorni CB, Blau N.
    Mol Genet Metab; 2019 May 01; 127(1):12-22. PubMed ID: 30952622
    [Abstract] [Full Text] [Related]

  • 13. S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine.
    Montioli R, Oppici E, Cellini B, Roncador A, Dindo M, Voltattorni CB.
    Hum Mol Genet; 2013 Apr 15; 22(8):1615-24. PubMed ID: 23321058
    [Abstract] [Full Text] [Related]

  • 14. Antisense oligonucleotides modulate dopa decarboxylase function in aromatic l-amino acid decarboxylase deficiency.
    Tsai CR, Lee HF, Chi CS, Yang MT, Hsu CC.
    Hum Mutat; 2018 Dec 15; 39(12):2072-2082. PubMed ID: 30260058
    [Abstract] [Full Text] [Related]

  • 15. Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up.
    Manegold C, Hoffmann GF, Degen I, Ikonomidou H, Knust A, Laass MW, Pritsch M, Wilichowski E, Hörster F.
    J Inherit Metab Dis; 2009 Jun 15; 32(3):371-80. PubMed ID: 19172410
    [Abstract] [Full Text] [Related]

  • 16. A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan.
    Lee NC, Chien YH, Hwu WL.
    Am J Med Genet C Semin Med Genet; 2019 Jun 15; 181(2):226-229. PubMed ID: 30614627
    [Abstract] [Full Text] [Related]

  • 17. Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma.
    Atwal PS, Donti TR, Cardon AL, Bacino CA, Sun Q, Emrick L, Reid Sutton V, Elsea SH.
    Mol Genet Metab; 2015 Jun 15; 115(2-3):91-4. PubMed ID: 25956449
    [Abstract] [Full Text] [Related]

  • 18. Regulation of the dopaminergic system in a murine model of aromatic L-amino acid decarboxylase deficiency.
    Lee NC, Shieh YD, Chien YH, Tzen KY, Yu IS, Chen PW, Hu MH, Hu MK, Muramatsu S, Ichinose H, Hwu WL.
    Neurobiol Dis; 2013 Apr 15; 52():177-90. PubMed ID: 23275025
    [Abstract] [Full Text] [Related]

  • 19. Prevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations.
    Hyland K, Reott M.
    Pediatr Neurol; 2020 May 15; 106():38-42. PubMed ID: 32111562
    [Abstract] [Full Text] [Related]

  • 20. Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency.
    Swoboda KJ, Hyland K, Goldstein DS, Kuban KC, Arnold LA, Holmes CS, Levy HL.
    Neurology; 1999 Oct 12; 53(6):1205-11. PubMed ID: 10522874
    [Abstract] [Full Text] [Related]

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