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Journal Abstract Search

207 related items for PubMed ID: 1281049

  • 1. Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology.
    Hyland K, Clayton PT.
    Clin Chem; 1992 Dec; 38(12):2405-10. PubMed ID: 1281049
    [Abstract] [Full Text] [Related]

  • 2. Abnormalities of biogenic amines affecting the metabolism of serotonin and catecholamines.
    Lamers KJ, Wevers RA.
    Mult Scler; 1998 Feb; 4(1):37-8. PubMed ID: 9532591
    [Abstract] [Full Text] [Related]

  • 3. The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: biochemical findings in two patients.
    Bräutigam C, Wevers RA, Hyland K, Sharma RK, Knust A, Hoffman GF.
    J Inherit Metab Dis; 2000 Jun; 23(4):321-4. PubMed ID: 10896284
    [No Abstract] [Full Text] [Related]

  • 4. Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a second family.
    Maller A, Hyland K, Milstien S, Biaggioni I, Butler IJ.
    J Child Neurol; 1997 Sep; 12(6):349-54. PubMed ID: 9309516
    [Abstract] [Full Text] [Related]

  • 5. Aromatic amino acid decarboxylase deficiency in twins.
    Hyland K, Clayton PT.
    J Inherit Metab Dis; 1990 Sep; 13(3):301-4. PubMed ID: 1700191
    [No Abstract] [Full Text] [Related]

  • 6. Aromatic L-amino acid decarboxylase enzyme activity in deficient patients and heterozygotes.
    Verbeek MM, Geurtz PB, Willemsen MA, Wevers RA.
    Mol Genet Metab; 2007 Apr; 90(4):363-9. PubMed ID: 17240182
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis.
    Hyland K, Surtees RA, Rodeck C, Clayton PT.
    Neurology; 1992 Oct 15; 42(10):1980-8. PubMed ID: 1357595
    [Abstract] [Full Text] [Related]

  • 9. Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency.
    Brennenstuhl H, Garbade SF, Okun JG, Feyh P, Hoffmann GF, Langhans CD, Opladen T.
    Mol Genet Metab; 2020 Oct 15; 131(1-2):163-170. PubMed ID: 32675002
    [Abstract] [Full Text] [Related]

  • 10. 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 15; 75():66-72. PubMed ID: 28823629
    [Abstract] [Full Text] [Related]

  • 11. 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 Oct 15; 115(2-3):91-4. PubMed ID: 25956449
    [Abstract] [Full Text] [Related]

  • 12. Prevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations.
    Hyland K, Reott M.
    Pediatr Neurol; 2020 May 15; 106():38-42. PubMed ID: 32111562
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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 13; 133(1):56-62. PubMed ID: 33744095
    [Abstract] [Full Text] [Related]

  • 15. Effect of pyridoxal phosphate deficiency on aromatic L-amino acid decarboxylase activity with L-DOPA and L-5-hydroxytryptophan as substrates in rats.
    Rahman MK, Nagatsu T, Sakurai T, Hori S, Abe M, Matsuda M.
    Jpn J Pharmacol; 1982 Oct 13; 32(5):803-11. PubMed ID: 6983619
    [Abstract] [Full Text] [Related]

  • 16. 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 13; 33(4):203-8. PubMed ID: 12368991
    [Abstract] [Full Text] [Related]

  • 17. Simultaneous measurement of monoamine metabolites and 5-methyltetrahydrofolate in the cerebrospinal fluid of children.
    Akiyama T, Hayashi Y, Hanaoka Y, Shibata T, Akiyama M, Nakamura K, Tsuyusaki Y, Kubota M, Yoshinaga H, Kobayashi K.
    Clin Chim Acta; 2017 Feb 13; 465():5-10. PubMed ID: 27940130
    [Abstract] [Full Text] [Related]

  • 18. Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area.
    Ling TK, Wong KC, Chan CY, Lau NK, Law CY, Lee HH, Lai CK, Chong YK, Yau KE, Cheung KM, Ko CH, Fung CW, Lee LK, Wong SS, Mak CM, Chan AY, Tam S, Lam CW.
    Clin Chim Acta; 2021 Oct 13; 521():40-44. PubMed ID: 34161777
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Effect of pyridoxine deficiency on aromatic L-amino acid decarboxylase in adult rat brain.
    Siow YL, Dakshinamurti K.
    Exp Brain Res; 1985 Apr 20; 59(3):575-81. PubMed ID: 3875501
    [Abstract] [Full Text] [Related]

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