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263 related items for PubMed ID: 25956449

  • 1. Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma.
    Atwal PS, Donti TR, Cardon AL, Bacino CA, Sun Q, Emrick L, Reid Sutton V, Elsea SH.
    Mol Genet Metab; 2015; 115(2-3):91-4. PubMed ID: 25956449
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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]

  • 4. 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]

  • 5. 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 20; 133(1):56-62. PubMed ID: 33744095
    [Abstract] [Full Text] [Related]

  • 6. High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots.
    Brennenstuhl H, Kohlmüller D, Gramer G, Garbade SF, Syrbe S, Feyh P, Kölker S, Okun JG, Hoffmann GF, Opladen T.
    J Inherit Metab Dis; 2020 May 20; 43(3):602-610. PubMed ID: 31849064
    [Abstract] [Full Text] [Related]

  • 7. Prevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations.
    Hyland K, Reott M.
    Pediatr Neurol; 2020 May 20; 106():38-42. PubMed ID: 32111562
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. Aromatic L-amino acid decarboxylase deficiency in Taiwan.
    Lee HF, Tsai CR, Chi CS, Chang TM, Lee HJ.
    Eur J Paediatr Neurol; 2009 Mar 20; 13(2):135-40. PubMed ID: 18567514
    [Abstract] [Full Text] [Related]

  • 10. 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 20; 43(10):1023-1028. PubMed ID: 34481663
    [Abstract] [Full Text] [Related]

  • 11. 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 20; 127(1):12-22. PubMed ID: 30952622
    [Abstract] [Full Text] [Related]

  • 12. Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis.
    Pons R, Ford B, Chiriboga CA, Clayton PT, Hinton V, Hyland K, Sharma R, De Vivo DC.
    Neurology; 2004 Apr 13; 62(7):1058-65. PubMed ID: 15079002
    [Abstract] [Full Text] [Related]

  • 13. [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]

  • 14. Simultaneous determination of 5-hydroxytryptophan and 3-O-methyldopa in dried blood spot by UPLC-MS/MS: A useful tool for the diagnosis of L-amino acid decarboxylase deficiency.
    Di Carlo E, Santagata S, Sauro L, Tolve M, Manti F, Leuzzi V, Angeloni A, Carducci C.
    J Chromatogr B Analyt Technol Biomed Life Sci; 2021 Nov 15; 1185():122999. PubMed ID: 34715572
    [Abstract] [Full Text] [Related]

  • 15. Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis.
    Abdenur JE, Abeling N, Specola N, Jorge L, Schenone AB, van Cruchten AC, Chamoles NA.
    Mol Genet Metab; 2006 Jan 15; 87(1):48-53. PubMed ID: 16288991
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. [Feeding difficulty and developmental delay for 8 months and nystagmus for 4 months in an infant].
    Zhu J, Yu F.
    Zhongguo Dang Dai Er Ke Za Zhi; 2017 Jan 09; 19(1):68-72. PubMed ID: 28100326
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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 09; 137(4):359-381. PubMed ID: 36427457
    [Abstract] [Full Text] [Related]

  • 20. 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]

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