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Journal Abstract Search

268 related items for PubMed ID: 32111562

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  • 26. The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.
    Bisello G, Kusmierska K, Verbeek MM, Sykut-Cegielska J, Willemsen MAAP, Wevers RA, Szymańska K, Poznanski J, Drozak J, Wertheim-Tysarowska K, Rygiel AM, Bertoldi M.
    Cell Mol Life Sci; 2022 May 20; 79(6):305. PubMed ID: 35593933
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  • 27. Non-invasive urinary screening for aromatic L-amino acid decarboxylase deficiency in high-prevalence areas: a pilot study.
    Lee HC, Lai CK, Yau KC, Siu TS, Mak CM, Yuen YP, Chan KY, Tam S, Lam CW, Chan AY.
    Clin Chim Acta; 2012 Jan 18; 413(1-2):126-30. PubMed ID: 21963339
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  • 28. 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 18; 90(4):363-9. PubMed ID: 17240182
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  • 30. High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots.
    Brennenstuhl H, Kohlmüller D, Gramer G, Garbade SF, Syrbe S, Feyh P, Kölker S, Okun JG, Hoffmann GF, Opladen T.
    J Inherit Metab Dis; 2020 May 18; 43(3):602-610. PubMed ID: 31849064
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  • 31. Human aromatic amino acid decarboxylase is an asymmetric and flexible enzyme: Implication in aromatic amino acid decarboxylase deficiency.
    Bisello G, Ribeiro RP, Perduca M, Belviso BD, Polverino De' Laureto P, Giorgetti A, Caliandro R, Bertoldi M.
    Protein Sci; 2023 Aug 18; 32(8):e4732. PubMed ID: 37466248
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  • 33. 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
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  • 34. Streamlined determination of 3-O-methyldopa in dried blood spots: Prospective screening for aromatic l-amino-acid decarboxylase deficiency.
    Chen PW, Hwu WL, Lee NC, Chien YH.
    Mol Genet Metab; 2023 Jul 12; 140(1-2):107687. PubMed ID: 37635029
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  • 35. Estimating the prevalence of ultra-rare inherited metabolic disorders: Aromatic amino acid decarboxylase (AADC) deficiency.
    Blau N.
    Mol Genet Metab; 2024 Mar 12; 141(3):108150. PubMed ID: 38302375
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  • 36. 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 12; 32(3):371-80. PubMed ID: 19172410
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  • 37. Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment.
    Wassenberg T, Geurtz BPH, Monnens L, Wevers RA, Willemsen MA, Verbeek MM.
    Mol Genet Metab Rep; 2021 Jun 12; 27():100762. PubMed ID: 33996491
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  • 38. Carrier frequency and incidence of aromatic L-amino acid decarboxylase deficiency: a gnomAD-based study.
    Park JE, Lee T, Ha K, Cho EH, Ki CS.
    Pediatr Res; 2023 Nov 12; 94(5):1764-1770. PubMed ID: 37286773
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  • 39. 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 12; 63(6):571-573. PubMed ID: 38460745
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  • 40. A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications.
    Montioli R, Dindo M, Giorgetti A, Piccoli S, Cellini B, Voltattorni CB.
    Hum Mol Genet; 2014 Oct 15; 23(20):5429-40. PubMed ID: 24865461
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