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Journal Abstract Search

321 related items for PubMed ID: 34253733

  • 1. 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]

  • 2. 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]

  • 3. 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]

  • 4. 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 16; 127(1):12-22. PubMed ID: 30952622
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Carbidopa-based modulation of the functional effect of the AAV2-hAADC gene therapy in 6-OHDA lesioned rats.
    Ciesielska A, Sharma N, Beyer J, Forsayeth J, Bankiewicz K.
    PLoS One; 2015 Nov 15; 10(4):e0122708. PubMed ID: 25860990
    [Abstract] [Full Text] [Related]

  • 7. SAFETY AND TOLERABILITY OF MRI-GUIDED INFUSION OF AAV2-hAADC INTO THE MID-BRAIN OF NON-HUMAN PRIMATE.
    San Sebastian W, Kells AP, Bringas J, Samaranch L, Hadaczek P, Ciesielska A, Macayan M, Pivirotto PJ, Forsayeth J, Osborne S, Wright JF, Green F, Heller G, Bankiewicz KS.
    Mol Ther Methods Clin Dev; 2014 Oct 15; 3():14049-. PubMed ID: 25541617
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. 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 01; 43(5):1121-1130. PubMed ID: 32369189
    [Abstract] [Full Text] [Related]

  • 10. Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency.
    Tai CH, Lee NC, Chien YH, Byrne BJ, Muramatsu SI, Tseng SH, Hwu WL.
    Mol Ther; 2022 Feb 02; 30(2):509-518. PubMed ID: 34763085
    [Abstract] [Full Text] [Related]

  • 11. Prevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations.
    Hyland K, Reott M.
    Pediatr Neurol; 2020 May 02; 106():38-42. PubMed ID: 32111562
    [Abstract] [Full Text] [Related]

  • 12. Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial.
    Chien YH, Lee NC, Tseng SH, Tai CH, Muramatsu SI, Byrne BJ, Hwu WL.
    Lancet Child Adolesc Health; 2017 Dec 02; 1(4):265-273. PubMed ID: 30169182
    [Abstract] [Full Text] [Related]

  • 13. 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 02; 38(10):959-963. PubMed ID: 27371992
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 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 13; 52():177-90. PubMed ID: 23275025
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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 09; 63(6):571-573. PubMed ID: 38460745
    [Abstract] [Full Text] [Related]

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  • 20. 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 09; 38(3):1532-1540. PubMed ID: 27859928
    [Abstract] [Full Text] [Related]

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