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Journal Abstract Search

229 related items for PubMed ID: 12200739

  • 1. Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency.
    Bräutigam C, Hyland K, Wevers R, Sharma R, Wagner L, Stock GJ, Heitmann F, Hoffmann GF.
    Neuropediatrics; 2002 Jun; 33(3):113-7. PubMed ID: 12200739
    [Abstract] [Full Text] [Related]

  • 2. 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; 87(1):48-53. PubMed ID: 16288991
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.
    Brun L, Ngu LH, Keng WT, Ch'ng GS, Choy YS, Hwu WL, Lee WT, Willemsen MA, Verbeek MM, Wassenberg T, Régal L, Orcesi S, Tonduti D, Accorsi P, Testard H, Abdenur JE, Tay S, Allen GF, Heales S, Kern I, Kato M, Burlina A, Manegold C, Hoffmann GF, Blau N.
    Neurology; 2010 Jul 06; 75(1):64-71. PubMed ID: 20505134
    [Abstract] [Full Text] [Related]

  • 5. 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 06; 33(4):203-8. PubMed ID: 12368991
    [Abstract] [Full Text] [Related]

  • 6. Aromatic L-amino acid decarboxylase deficiency associated with epilepsy mimicking non-epileptic involuntary movements.
    Ito S, Nakayama T, Ide S, Ito Y, Oguni H, Goto Y, Osawa M.
    Dev Med Child Neurol; 2008 Nov 06; 50(11):876-8. PubMed ID: 18754761
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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 20; 91(4):374-8. PubMed ID: 17533144
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment.
    Wassenberg T, Geurtz BPH, Monnens L, Wevers RA, Willemsen MA, Verbeek MM.
    Mol Genet Metab Rep; 2021 Jun 20; 27():100762. PubMed ID: 33996491
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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 20; 114(1):87-96. PubMed ID: 20403077
    [Abstract] [Full Text] [Related]

  • 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 20; 13(2):135-40. PubMed ID: 18567514
    [Abstract] [Full Text] [Related]

  • 14. 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 Mar 20; 115(2-3):91-4. PubMed ID: 25956449
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. [Molecular genetics of aromatic L-amino acid decarboxylase].
    Ichinose H, Nagatsu T.
    Yakubutsu Seishin Kodo; 1993 Aug 20; 13(4):251-6. PubMed ID: 8237142
    [Abstract] [Full Text] [Related]

  • 17. 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 Aug 20; 131(1-2):163-170. PubMed ID: 32675002
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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]

  • 20. Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up.
    Manegold C, Hoffmann GF, Degen I, Ikonomidou H, Knust A, Laass MW, Pritsch M, Wilichowski E, Hörster F.
    J Inherit Metab Dis; 2009 Jun 20; 32(3):371-80. PubMed ID: 19172410
    [Abstract] [Full Text] [Related]

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