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Journal Abstract Search

235 related items for PubMed ID: 19172410

  • 1. 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; 32(3):371-80. PubMed ID: 19172410
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 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 13; 13(2):135-40. PubMed ID: 18567514
    [Abstract] [Full Text] [Related]

  • 4. 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 13; 38(10):959-963. PubMed ID: 27371992
    [Abstract] [Full Text] [Related]

  • 5. 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 13; 87(1):48-53. PubMed ID: 16288991
    [Abstract] [Full Text] [Related]

  • 6. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
    Wassenberg T, Molero-Luis M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M, Opladen T.
    Orphanet J Rare Dis; 2017 Jan 18; 12(1):12. PubMed ID: 28100251
    [Abstract] [Full Text] [Related]

  • 7. 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 18; 33(4):203-8. PubMed ID: 12368991
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. Prevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations.
    Hyland K, Reott M.
    Pediatr Neurol; 2020 May 06; 106():38-42. PubMed ID: 32111562
    [Abstract] [Full Text] [Related]

  • 10. Selective Serotonin Reuptake Inhibitor Treatment Post Gene Therapy for an Ultrarare Neurometabolic Disorder (AADC Deficiency).
    Baribeau DA, Vorstman JAS, Pearson TS.
    J Am Acad Child Adolesc Psychiatry; 2024 Jun 06; 63(6):571-573. PubMed ID: 38460745
    [Abstract] [Full Text] [Related]

  • 11. 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 06; 75():66-72. PubMed ID: 28823629
    [Abstract] [Full Text] [Related]

  • 12. Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency.
    Ide S, Sasaki M, Kato M, Shiihara T, Kinoshita S, Takahashi JY, Goto Y.
    Brain Dev; 2010 Jun 06; 32(6):506-10. PubMed ID: 19520530
    [Abstract] [Full Text] [Related]

  • 13. AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.
    Pearson TS, Gilbert L, Opladen T, Garcia-Cazorla A, Mastrangelo M, Leuzzi V, Tay SKH, Sykut-Cegielska J, Pons R, Mercimek-Andrews S, Kato M, Lücke T, Oppebøen M, Kurian MA, Steel D, Manti F, Meeks KD, Jeltsch K, Flint L.
    J Inherit Metab Dis; 2020 Sep 06; 43(5):1121-1130. PubMed ID: 32369189
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype.
    Hasegawa Y, Nishi E, Mishima Y, Sakaguchi T, Sekiguchi F, Miyake N, Kojima K, Osaka H, Matsumoto N, Okamoto N.
    Brain Dev; 2021 Nov 06; 43(10):1023-1028. PubMed ID: 34481663
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. Microstructural changes of brain in patients with aromatic L-amino acid decarboxylase deficiency.
    Lee WT, Lin JH, Weng WC, Peng SS.
    Hum Brain Mapp; 2017 Mar 12; 38(3):1532-1540. PubMed ID: 27859928
    [Abstract] [Full Text] [Related]

  • 18. 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 12; 91(4):374-8. PubMed ID: 17533144
    [Abstract] [Full Text] [Related]

  • 19. 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 Aug 12; 1(2-3):67-71. PubMed ID: 10728198
    [Abstract] [Full Text] [Related]

  • 20. Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons.
    Pearson TS, Gupta N, San Sebastian W, Imamura-Ching J, Viehoever A, Grijalvo-Perez A, Fay AJ, Seth N, Lundy SM, Seo Y, Pampaloni M, Hyland K, Smith E, de Oliveira Barbosa G, Heathcock JC, Minnema A, Lonser R, Elder JB, Leonard J, Larson P, Bankiewicz KS.
    Nat Commun; 2021 Jul 12; 12(1):4251. PubMed ID: 34253733
    [Abstract] [Full Text] [Related]

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