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Journal Abstract Search

267 related items for PubMed ID: 12368991

  • 1. 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; 33(4):203-8. PubMed ID: 12368991
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. Aromatic L-amino acid decarboxylase deficiency in Taiwan.
    Lee HF, Tsai CR, Chi CS, Chang TM, Lee HJ.
    Eur J Paediatr Neurol; 2009 Mar 06; 13(2):135-40. PubMed ID: 18567514
    [Abstract] [Full Text] [Related]

  • 4. 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 06; 87(1):48-53. PubMed ID: 16288991
    [Abstract] [Full Text] [Related]

  • 5. Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency.
    Bräutigam C, Hyland K, Wevers R, Sharma R, Wagner L, Stock GJ, Heitmann F, Hoffmann GF.
    Neuropediatrics; 2002 Jun 06; 33(3):113-7. PubMed ID: 12200739
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Pyridoxal 5'-phosphate deficiency causes a loss of aromatic L-amino acid decarboxylase in patients and human neuroblastoma cells, implications for aromatic L-amino acid decarboxylase and vitamin B(6) deficiency states.
    Allen GF, Neergheen V, Oppenheim M, Fitzgerald JC, Footitt E, Hyland K, Clayton PT, Land JM, Heales SJ.
    J Neurochem; 2010 Jul 06; 114(1):87-96. PubMed ID: 20403077
    [Abstract] [Full Text] [Related]

  • 8. Aromatic L-amino acid decarboxylase enzyme activity in deficient patients and heterozygotes.
    Verbeek MM, Geurtz PB, Willemsen MA, Wevers RA.
    Mol Genet Metab; 2007 Apr 06; 90(4):363-9. PubMed ID: 17240182
    [Abstract] [Full Text] [Related]

  • 9. 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 06; 32(3):371-80. PubMed ID: 19172410
    [Abstract] [Full Text] [Related]

  • 10. Vesicular monoamine transporter-2 and aromatic L-amino acid decarboxylase gene therapy prevents development of motor complications in parkinsonian rats after chronic intermittent L-3,4-dihydroxyphenylalanine administration.
    Lee WY, Lee EA, Jeon MY, Kang HY, Park YG.
    Exp Neurol; 2006 Jan 06; 197(1):215-24. PubMed ID: 16269145
    [Abstract] [Full Text] [Related]

  • 11. 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 06; 38(10):959-963. PubMed ID: 27371992
    [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 06; 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. 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]

  • 15. 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]

  • 16. A new perspective on the treatment of aromatic L-amino acid decarboxylase deficiency.
    Allen GF, Land JM, Heales SJ.
    Mol Genet Metab; 2009 May 15; 97(1):6-14. PubMed ID: 19231266
    [Abstract] [Full Text] [Related]

  • 17. Aromatic L-amino acid decarboxylase deficiency: an extrapyramidal movement disorder with oculogyric crises.
    Korenke GC, Christen HJ, Hyland K, Hunneman DH, Hanefeld F.
    Eur J Paediatr Neurol; 1997 May 15; 1(2-3):67-71. PubMed ID: 10728198
    [Abstract] [Full Text] [Related]

  • 18. Clinical Metabolomics to Segregate Aromatic Amino Acid Decarboxylase Deficiency From Drug-Induced Metabolite Elevations.
    Pappan KL, Kennedy AD, Magoulas PL, Hanchard NA, Sun Q, Elsea SH.
    Pediatr Neurol; 2017 Oct 15; 75():66-72. PubMed ID: 28823629
    [Abstract] [Full Text] [Related]

  • 19. Aromatic L-amino acid decarboxylase deficiency associated with epilepsy mimicking non-epileptic involuntary movements.
    Ito S, Nakayama T, Ide S, Ito Y, Oguni H, Goto Y, Osawa M.
    Dev Med Child Neurol; 2008 Nov 15; 50(11):876-8. PubMed ID: 18754761
    [Abstract] [Full Text] [Related]

  • 20. Monoamine neurotransmitter deficiencies.
    Pearl PL.
    Handb Clin Neurol; 2013 Nov 15; 113():1819-25. PubMed ID: 23622404
    [Abstract] [Full Text] [Related]

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