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202 related items for PubMed ID: 30260058

  • 1. 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
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  • 3. 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; 141(3):108148. PubMed ID: 38302374
    [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; 13(2):135-40. PubMed ID: 18567514
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  • 5. 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; 8(3):e1143. PubMed ID: 31975548
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China.
    Wen Y, Wang J, Zhang Q, Chen Y, Bao X.
    J Hum Genet; 2020 Sep 01; 65(9):759-769. PubMed ID: 32409695
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. Heterozygosis in aromatic amino acid decarboxylase deficiency: Evidence for a positive interallelic complementation between R347Q and R358H mutations.
    Montioli R, Janson G, Paiardini A, Bertoldi M, Borri Voltattorni C.
    IUBMB Life; 2018 Mar 15; 70(3):215-223. PubMed ID: 29356298
    [Abstract] [Full Text] [Related]

  • 10. Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry.
    Montioli R, Borri Voltattorni C.
    Int J Mol Sci; 2021 Mar 19; 22(6):. PubMed ID: 33808712
    [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 19; 106():38-42. PubMed ID: 32111562
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Aromatic L-Amino Acid Decarboxylase Deficiency: A Genetic Screening in Sicilian Patients with Neurological Disorders.
    Santa Paola S, Di Blasi FD, Borgione E, Lo Giudice M, Giuliano M, Pettinato R, Di Stefano V, Brighina F, Lupica A, Scuderi C.
    Genes (Basel); 2024 Jan 21; 15(1):. PubMed ID: 38275615
    [Abstract] [Full Text] [Related]

  • 14. Burden of illness of aromatic L-amino acid decarboxylase deficiency: a survey of physicians in Southern Europe.
    Saberian S, Rowan P, Hammes F, Patel P, Fernandez-Cortes F, Buesch K, Beitia Ortiz de Zarate I.
    Curr Med Res Opin; 2022 Jul 21; 38(7):1115-1123. PubMed ID: 35575170
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. Molecular characteristic and physiological role of DOPA-decarboxylase.
    Guenter J, Lenartowski R.
    Postepy Hig Med Dosw (Online); 2016 Dec 31; 70(0):1424-1440. PubMed ID: 28100850
    [Abstract] [Full Text] [Related]

  • 17. When dysphoria is not a primary mental state: A case report of the role of the aromatic L-aminoacid decarboxylase.
    Portaro S, Gugliandolo A, Scionti D, Cammaroto S, Morabito R, Leonardi S, Fraggetta F, Bramanti P, Mazzon E.
    Medicine (Baltimore); 2018 Jun 31; 97(22):e10953. PubMed ID: 29851841
    [Abstract] [Full Text] [Related]

  • 18. A novel DDC gene deletion mutation in two Chinese mainland siblings with aromatic l-amino acid decarboxylase deficiency.
    Dai L, Ding C, Fang F.
    Brain Dev; 2019 Feb 31; 41(2):205-209. PubMed ID: 30144970
    [Abstract] [Full Text] [Related]

  • 19. A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies.
    Montioli R, Battini R, Paiardini A, Tolve M, Bertoldi M, Carducci C, Leuzzi V, Borri Voltattorni C.
    Mol Genet Metab; 2019 Jun 31; 127(2):132-137. PubMed ID: 31104889
    [Abstract] [Full Text] [Related]

  • 20. 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 31; 52():177-90. PubMed ID: 23275025
    [Abstract] [Full Text] [Related]

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