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229 related items for PubMed ID: 30614627

  • 1. 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; 181(2):226-229. PubMed ID: 30614627
    [Abstract] [Full Text] [Related]

  • 2. 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; 39(12):2072-2082. PubMed ID: 30260058
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. Aromatic L-amino acid decarboxylase deficiency in Taiwan.
    Lee HF, Tsai CR, Chi CS, Chang TM, Lee HJ.
    Eur J Paediatr Neurol; 2009 Mar 01; 13(2):135-40. PubMed ID: 18567514
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency.
    Kojima K, Nakajima T, Taga N, Miyauchi A, Kato M, Matsumoto A, Ikeda T, Nakamura K, Kubota T, Mizukami H, Ono S, Onuki Y, Sato T, Osaka H, Muramatsu SI, Yamagata T.
    Brain; 2019 Feb 01; 142(2):322-333. PubMed ID: 30689738
    [Abstract] [Full Text] [Related]

  • 7. Gene therapy for aromatic L-amino acid decarboxylase deficiency.
    Hwu WL, Muramatsu S, Tseng SH, Tzen KY, Lee NC, Chien YH, Snyder RO, Byrne BJ, Tai CH, Wu RM.
    Sci Transl Med; 2012 May 16; 4(134):134ra61. PubMed ID: 22593174
    [Abstract] [Full Text] [Related]

  • 8. Eladocagene Exuparvovec: First Approval.
    Keam SJ.
    Drugs; 2022 Sep 16; 82(13):1427-1432. PubMed ID: 36103022
    [Abstract] [Full Text] [Related]

  • 9. Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency.
    Lee NC, Muramatsu S, Chien YH, Liu WS, Wang WH, Cheng CH, Hu MK, Chen PW, Tzen KY, Byrne BJ, Hwu WL.
    Mol Ther; 2015 Oct 16; 23(10):1572-81. PubMed ID: 26137853
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. A pathogenic S250F missense mutation results in a mouse model of mild aromatic l-amino acid decarboxylase (AADC) deficiency.
    Caine C, Shohat M, Kim JK, Nakanishi K, Homma S, Mosharov EV, Monani UR.
    Hum Mol Genet; 2017 Nov 15; 26(22):4406-4415. PubMed ID: 28973165
    [Abstract] [Full Text] [Related]

  • 12. Aromatic L-amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview.
    Dai W, Lu D, Gu X, Yu Y, Mainland Chinese League of AADC Rare Disease.
    Mol Genet Genomic Med; 2020 Mar 15; 8(3):e1143. PubMed ID: 31975548
    [Abstract] [Full Text] [Related]

  • 13. Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.
    Abukhaled M, Al Muqbil M, Alghamdi MA, Hundallah K, Suleiman J, Ben-Omran T, Alfadhel M, Almannai M, Alsaleh R, Tabarki B.
    Eur J Pediatr; 2023 Jun 15; 182(6):2535-2545. PubMed ID: 36928758
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. [Anesthetic Care of Children With Gene Therapy for the Treatment of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency].
    Li WC, Fan SZ.
    Hu Li Za Zhi; 2019 Feb 15; 66(1):107-114. PubMed ID: 30648251
    [Abstract] [Full Text] [Related]

  • 16. Gene therapy for aromatic L-amino acid decarboxylase deficiency.
    Zwagerman NT, Richardson RM.
    Neurosurgery; 2012 Oct 15; 71(4):N10-2. PubMed ID: 22989964
    [No Abstract] [Full Text] [Related]

  • 17. Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up.
    Roubertie A, Opladen T, Brennenstuhl H, Kuseyri Hübschmann O, Flint L, Willemsen MA, Leuzzi V, Cazorla AG, Kurian MA, François-Heude MC, Hwu P, Zeev BB, Kiening K, Roujeau T, Pons R, Pearson TS.
    J Inherit Metab Dis; 2024 May 15; 47(3):463-475. PubMed ID: 37402126
    [Abstract] [Full Text] [Related]

  • 18. Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculations.
    Reischl-Hajiabadi AT, Okun JG, Kohlmüller D, Manukjan G, Hegert S, Durner J, Schuhmann E, Hörster F, Mütze U, Feyh P, Hoffmann GF, Röschinger W, Janzen N, Opladen T.
    Mol Genet Metab; 2024 Mar 15; 141(3):108148. PubMed ID: 38302374
    [Abstract] [Full Text] [Related]

  • 19. Case report: discovery of 2 gene variants for aromatic L-amino acid decarboxylase deficiency in 2 African American siblings.
    Monteleone B, Hyland K.
    BMC Neurol; 2020 Jan 09; 20(1):12. PubMed ID: 31918669
    [Abstract] [Full Text] [Related]

  • 20. Prevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations.
    Hyland K, Reott M.
    Pediatr Neurol; 2020 May 09; 106():38-42. PubMed ID: 32111562
    [Abstract] [Full Text] [Related]

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