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Journal Abstract Search

186 related items for PubMed ID: 30144970

  • 1. 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; 41(2):205-209. PubMed ID: 30144970
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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 09; 43(10):1023-1028. PubMed ID: 34481663
    [Abstract] [Full Text] [Related]

  • 5. 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 09; 91(4):374-8. PubMed ID: 17533144
    [Abstract] [Full Text] [Related]

  • 6. Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disorders.
    Riva A, Iacomino M, Piccardo C, Franceschetti L, Franchini R, Baroni A, Minetti C, Bisello G, Zara F, Scala M, Striano P, Bertoldi M.
    Biochem Biophys Res Commun; 2023 Sep 17; 673():131-136. PubMed ID: 37385007
    [Abstract] [Full Text] [Related]

  • 7. 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 17; 38(10):959-963. PubMed ID: 27371992
    [Abstract] [Full Text] [Related]

  • 8. Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations.
    Himmelreich N, Montioli R, Garbade SF, Kopesky J, Elsea SH, Carducci C, Voltattorni CB, Blau N.
    Mol Genet Metab; 2022 Dec 17; 137(4):359-381. PubMed ID: 36427457
    [Abstract] [Full Text] [Related]

  • 9. 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 17; 8(3):e1143. PubMed ID: 31975548
    [Abstract] [Full Text] [Related]

  • 10. 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 17; 65(9):759-769. PubMed ID: 32409695
    [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 17; 106():38-42. PubMed ID: 32111562
    [Abstract] [Full Text] [Related]

  • 12. Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling.
    Koshimizu E, Kato M, Misawa K, Uchiyama Y, Tsuchida N, Hamanaka K, Fujita A, Mizuguchi T, Miyatake S, Matsumoto N.
    J Hum Genet; 2024 Apr 17; 69(3-4):153-157. PubMed ID: 38216729
    [Abstract] [Full Text] [Related]

  • 13. 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 17; 127(1):12-22. PubMed ID: 30952622
    [Abstract] [Full Text] [Related]

  • 14. Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant.
    Graziano C, Wischmeijer A, Pippucci T, Fusco C, Diquigiovanni C, Nõukas M, Sauk M, Kurg A, Rivieri F, Blau N, Hoffmann GF, Chaubey A, Schwartz CE, Romeo G, Bonora E, Garavelli L, Seri M.
    Gene; 2015 Apr 01; 559(2):144-8. PubMed ID: 25597765
    [Abstract] [Full Text] [Related]

  • 15. Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience.
    Burlina A, Giuliani A, Polo G, Gueraldi D, Gragnaniello V, Cazzorla C, Opladen T, Hoffmann G, Blau N, Burlina AP.
    Mol Genet Metab; 2021 May 01; 133(1):56-62. PubMed ID: 33744095
    [Abstract] [Full Text] [Related]

  • 16. 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 01; 182(6):2535-2545. PubMed ID: 36928758
    [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 01; 97(22):e10953. PubMed ID: 29851841
    [Abstract] [Full Text] [Related]

  • 18. 3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency.
    Chien YH, Chen PW, Lee NC, Hsieh WS, Chiu PC, Hwu WL, Tsai FJ, Lin SP, Chu SY, Jong YJ, Chao MC.
    Mol Genet Metab; 2016 Aug 01; 118(4):259-63. PubMed ID: 27216367
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. 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]

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