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Journal Abstract Search

269 related items for PubMed ID: 27371992

  • 21. Mild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old Girl.
    Yoldaş Çelik M, Canda E, Yazıcı H, Erdem F, Yüksel Yanbolu A, Aykut A, Durmaz A, Anık A, Kalkan Uçar S, Çoker M.
    J Clin Res Pediatr Endocrinol; 2024 Sep 05; 16(3):361-366. PubMed ID: 36598177
    [Abstract] [Full Text] [Related]

  • 22. 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]

  • 23. Aromatic L-amino acid decarboxylase deficiency is a cause of long-fasting hypoglycemia.
    Arnoux JB, Damaj L, Napuri S, Serre V, Hubert L, Cadoudal M, Simard G, Ceballos I, Christa L, de Lonlay P.
    J Clin Endocrinol Metab; 2013 Nov 19; 98(11):4279-84. PubMed ID: 24037885
    [Abstract] [Full Text] [Related]

  • 24. Aromatic L-amino acid decarboxylase deficiency: an extrapyramidal movement disorder with oculogyric crises.
    Korenke GC, Christen HJ, Hyland K, Hunneman DH, Hanefeld F.
    Eur J Paediatr Neurol; 1997 Nov 19; 1(2-3):67-71. PubMed ID: 10728198
    [Abstract] [Full Text] [Related]

  • 25. 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 19; 127(2):132-137. PubMed ID: 31104889
    [Abstract] [Full Text] [Related]

  • 26. 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 19; 137(4):359-381. PubMed ID: 36427457
    [Abstract] [Full Text] [Related]

  • 27. 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 19; 65(9):759-769. PubMed ID: 32409695
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  • 29. 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 19; 182(6):2535-2545. PubMed ID: 36928758
    [Abstract] [Full Text] [Related]

  • 30. 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]

  • 31. Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency.
    Ide S, Sasaki M, Kato M, Shiihara T, Kinoshita S, Takahashi JY, Goto Y.
    Brain Dev; 2010 Jun 15; 32(6):506-10. PubMed ID: 19520530
    [Abstract] [Full Text] [Related]

  • 32. 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 15; 91(4):374-8. PubMed ID: 17533144
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  • 34. Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies.
    Fiumara A, Bräutigam C, Hyland K, Sharma R, Lagae L, Stoltenborg B, Hoffmann GF, Jaeken J, Wevers RA.
    Neuropediatrics; 2002 Aug 15; 33(4):203-8. PubMed ID: 12368991
    [Abstract] [Full Text] [Related]

  • 35. 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]

  • 36. 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 16; 97(22):e10953. PubMed ID: 29851841
    [Abstract] [Full Text] [Related]

  • 37. 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 16; 52():177-90. PubMed ID: 23275025
    [Abstract] [Full Text] [Related]

  • 38. Molecular insights into the pathogenicity of variants associated with the aromatic amino acid decarboxylase deficiency.
    Montioli R, Cellini B, Borri Voltattorni C.
    J Inherit Metab Dis; 2011 Dec 16; 34(6):1213-24. PubMed ID: 21541720
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  • 40. Recurrent Dystonic Crisis and Rhabdomyolysis Treated with Dantrolene in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency.
    Micallef J, Stockler-Ipsiroglu S, van Karnebeek CD, Salvarinova-Zivkovic R, Horvath G.
    Neuropediatrics; 2020 Jun 16; 51(3):229-232. PubMed ID: 31935764
    [Abstract] [Full Text] [Related]

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