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Journal Abstract Search

257 related items for PubMed ID: 17533144

  • 21. 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]

  • 22. 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]

  • 23. 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 15; 133(1):56-62. PubMed ID: 33744095
    [Abstract] [Full Text] [Related]

  • 24. [Clinical and genetic analysis of two pedigrees affected with aromatic L-amino acid decarboxylase deficiency].
    Wang Y, Ke Z, Zou H, Lin M, Qiu M, Gu W, Chen Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Nov 10; 36(11):1085-1089. PubMed ID: 31703131
    [Abstract] [Full Text] [Related]

  • 25. 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 10; 32(6):506-10. PubMed ID: 19520530
    [Abstract] [Full Text] [Related]

  • 26. Non-invasive urinary screening for aromatic L-amino acid decarboxylase deficiency in high-prevalence areas: a pilot study.
    Lee HC, Lai CK, Yau KC, Siu TS, Mak CM, Yuen YP, Chan KY, Tam S, Lam CW, Chan AY.
    Clin Chim Acta; 2012 Jan 18; 413(1-2):126-30. PubMed ID: 21963339
    [Abstract] [Full Text] [Related]

  • 27. Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: the unsolved paradox.
    Wassenberg T, Willemsen MA, Geurtz PB, Lammens M, Verrijp K, Wilmer M, Lee WT, Wevers RA, Verbeek MM.
    Mol Genet Metab; 2010 Dec 18; 101(4):349-56. PubMed ID: 20832343
    [Abstract] [Full Text] [Related]

  • 28. Anesthesia management in a young child with aromatic l-amino acid decarboxylase deficiency.
    Vutskits L, Menache C, Manzano S, Haenggeli CA, Habre W.
    Paediatr Anaesth; 2006 Jan 18; 16(1):82-4. PubMed ID: 16409536
    [Abstract] [Full Text] [Related]

  • 29. Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes.
    Swoboda KJ, Saul JP, McKenna CE, Speller NB, Hyland K.
    Ann Neurol; 2003 Jan 18; 54 Suppl 6():S49-55. PubMed ID: 12891654
    [Abstract] [Full Text] [Related]

  • 30. 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]

  • 31. Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect.
    Guella I, Soldà G, Spena S, Asselta R, Ghiotto R, Tenchini ML, Castaman G, Duga S.
    Thromb Haemost; 2008 Mar 20; 99(3):523-30. PubMed ID: 18327400
    [Abstract] [Full Text] [Related]

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  • 33. AADC deficiency: occurring in humans, modeled in rodents.
    Hwu WL, Lee NC, Chien YH, Muramatsu S, Ichinose H.
    Adv Pharmacol; 2013 Mar 20; 68():273-84. PubMed ID: 24054149
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  • 35. 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 20; 70(3):215-223. PubMed ID: 29356298
    [Abstract] [Full Text] [Related]

  • 36. Levodopa-responsive aromatic L-amino acid decarboxylase deficiency.
    Chang YT, Sharma R, Marsh JL, McPherson JD, Bedell JA, Knust A, Bräutigam C, Hoffmann GF, Hyland K.
    Ann Neurol; 2004 Mar 20; 55(3):435-8. PubMed ID: 14991824
    [Abstract] [Full Text] [Related]

  • 37. Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency.
    Swoboda KJ, Hyland K, Goldstein DS, Kuban KC, Arnold LA, Holmes CS, Levy HL.
    Neurology; 1999 Oct 12; 53(6):1205-11. PubMed ID: 10522874
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  • 39. 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 12; 75():66-72. PubMed ID: 28823629
    [Abstract] [Full Text] [Related]

  • 40. 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]

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