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Journal Abstract Search

268 related items for PubMed ID: 32111562

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

  • 2. 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; 133(1):56-62. PubMed ID: 33744095
    [Abstract] [Full Text] [Related]

  • 3. 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; 127(1):12-22. PubMed ID: 30952622
    [Abstract] [Full Text] [Related]

  • 4. Clinical Metabolomics to Segregate Aromatic Amino Acid Decarboxylase Deficiency From Drug-Induced Metabolite Elevations.
    Pappan KL, Kennedy AD, Magoulas PL, Hanchard NA, Sun Q, Elsea SH.
    Pediatr Neurol; 2017 Oct; 75():66-72. PubMed ID: 28823629
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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]

  • 7. 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]

  • 8. Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
    Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Hübschmann OK, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N, Kasapkara ÇS, Kurian MA, Kusmierska K, Liu N, Ngu LH, Odom JD, Ong WP, Opladen T, Oppeboen M, Pearl PL, Pérez B, Pons R, Rygiel AM, Shien TE, Spaull R, Sykut-Cegielska J, Tabarki B, Tangeraas T, Thöny B, Wassenberg T, Wen Y, Yakob Y, Yin JGC, Zeman J, Blau N.
    Mol Genet Metab; 2023 Jul 05; 139(3):107624. PubMed ID: 37348148
    [Abstract] [Full Text] [Related]

  • 9. Diagnosis of aromatic L-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots.
    Chen PW, Lee NC, Chien YH, Wu JY, Wang PC, Hwu WL.
    Clin Chim Acta; 2014 Apr 20; 431():19-22. PubMed ID: 24513538
    [Abstract] [Full Text] [Related]

  • 10. 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 20; 137(4):359-381. PubMed ID: 36427457
    [Abstract] [Full Text] [Related]

  • 11. 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 20; 38(10):959-963. PubMed ID: 27371992
    [Abstract] [Full Text] [Related]

  • 12. 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 20; 118(4):259-63. PubMed ID: 27216367
    [Abstract] [Full Text] [Related]

  • 13. 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
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  • 18. 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 15; 52():177-90. PubMed ID: 23275025
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  • 19. 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]

  • 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 17; 70(3):215-223. PubMed ID: 29356298
    [Abstract] [Full Text] [Related]

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