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Journal Abstract Search

270 related items for PubMed ID: 16288991

  • 1. 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
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  • 2. 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; 91(4):374-8. PubMed ID: 17533144
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  • 5. 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; 131(1-2):163-170. PubMed ID: 32675002
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  • 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
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  • 7. 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; 33(4):203-8. PubMed ID: 12368991
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  • 8. Aromatic L-amino acid decarboxylase deficiency in Taiwan.
    Lee HF, Tsai CR, Chi CS, Chang TM, Lee HJ.
    Eur J Paediatr Neurol; 2009 Mar; 13(2):135-40. PubMed ID: 18567514
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  • 9. 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
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  • 10. Aromatic L-amino acid decarboxylase deficiency is a cause of long-fasting hypoglycemia.
    Arnoux JB, Damaj L, Napuri S, Serre V, Hubert L, Cadoudal M, Simard G, Ceballos I, Christa L, de Lonlay P.
    J Clin Endocrinol Metab; 2013 Nov 13; 98(11):4279-84. PubMed ID: 24037885
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  • 11. 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
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  • 13. 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 18; 50(11):876-8. PubMed ID: 18754761
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  • 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 Nov 18; 115(2-3):91-4. PubMed ID: 25956449
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  • 15. 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 18; 27():100762. PubMed ID: 33996491
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  • 16. 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
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  • 17. 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
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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 18; 133(1):56-62. PubMed ID: 33744095
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  • 19. Prevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations.
    Hyland K, Reott M.
    Pediatr Neurol; 2020 May 18; 106():38-42. PubMed ID: 32111562
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  • 20. 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
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