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Journal Abstract Search

241 related items for PubMed ID: 24865461

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  • 3. 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
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  • 4. 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 15; 127(2):132-137. PubMed ID: 31104889
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  • 5. New variants of AADC deficiency expand the knowledge of enzymatic phenotypes.
    Montioli R, Bisello G, Dindo M, Rossignoli G, Voltattorni CB, Bertoldi M.
    Arch Biochem Biophys; 2020 Mar 30; 682():108263. PubMed ID: 31953134
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  • 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
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  • 7. 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 19; 34(6):1213-24. PubMed ID: 21541720
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  • 9. 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 19; 32(8):e4732. PubMed ID: 37466248
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  • 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
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  • 13. Aromatic L-amino acid decarboxylase deficiency in Taiwan.
    Lee HF, Tsai CR, Chi CS, Chang TM, Lee HJ.
    Eur J Paediatr Neurol; 2009 Mar 19; 13(2):135-40. PubMed ID: 18567514
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  • 14. 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 19; 127(1):12-22. PubMed ID: 30952622
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  • 15. 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 19; 38(10):959-963. PubMed ID: 27371992
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  • 17. 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
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  • 18. 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 19; 133(1):56-62. PubMed ID: 33744095
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  • 19. Pyridoxal 5'-phosphate deficiency causes a loss of aromatic L-amino acid decarboxylase in patients and human neuroblastoma cells, implications for aromatic L-amino acid decarboxylase and vitamin B(6) deficiency states.
    Allen GF, Neergheen V, Oppenheim M, Fitzgerald JC, Footitt E, Hyland K, Clayton PT, Land JM, Heales SJ.
    J Neurochem; 2010 Jul 19; 114(1):87-96. PubMed ID: 20403077
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  • 20. 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 19; 39(12):2072-2082. PubMed ID: 30260058
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