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Journal Abstract Search

174 related items for PubMed ID: 24714172

  • 1. A rare cause of severe diarrhoea diagnosed by urine metabolic screening: aromatic L-amino acid decarboxylase deficiency.
    Lee LK, Cheung KM, Cheng WW, Ko CH, Lee HH, Ching CK, Mak C.
    Hong Kong Med J; 2014 Apr; 20(2):161-4. PubMed ID: 24714172
    [Abstract] [Full Text] [Related]

  • 2. Aromatic L-amino acid decarboxylase deficiency: an extrapyramidal movement disorder with oculogyric crises.
    Korenke GC, Christen HJ, Hyland K, Hunneman DH, Hanefeld F.
    Eur J Paediatr Neurol; 1997 Apr; 1(2-3):67-71. PubMed ID: 10728198
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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; 98(11):4279-84. PubMed ID: 24037885
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  • 6. The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China.
    Wen Y, Wang J, Zhang Q, Chen Y, Bao X.
    J Hum Genet; 2020 Sep; 65(9):759-769. PubMed ID: 32409695
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 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 18; 42(10):1980-8. PubMed ID: 1357595
    [Abstract] [Full Text] [Related]

  • 9. 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 18; 115(2-3):91-4. PubMed ID: 25956449
    [Abstract] [Full Text] [Related]

  • 10. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
    Wassenberg T, Molero-Luis M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M, Opladen T.
    Orphanet J Rare Dis; 2017 Jan 18; 12(1):12. PubMed ID: 28100251
    [Abstract] [Full Text] [Related]

  • 11. Aromatic L-amino acid decarboxylase deficiency in Taiwan.
    Lee HF, Tsai CR, Chi CS, Chang TM, Lee HJ.
    Eur J Paediatr Neurol; 2009 Mar 18; 13(2):135-40. PubMed ID: 18567514
    [Abstract] [Full Text] [Related]

  • 12. 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 18; 32(6):506-10. PubMed ID: 19520530
    [Abstract] [Full Text] [Related]

  • 13. Recurrent Dystonic Crisis and Rhabdomyolysis Treated with Dantrolene in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency.
    Micallef J, Stockler-Ipsiroglu S, van Karnebeek CD, Salvarinova-Zivkovic R, Horvath G.
    Neuropediatrics; 2020 Jun 18; 51(3):229-232. PubMed ID: 31935764
    [Abstract] [Full Text] [Related]

  • 14. AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.
    Pearson TS, Gilbert L, Opladen T, Garcia-Cazorla A, Mastrangelo M, Leuzzi V, Tay SKH, Sykut-Cegielska J, Pons R, Mercimek-Andrews S, Kato M, Lücke T, Oppebøen M, Kurian MA, Steel D, Manti F, Meeks KD, Jeltsch K, Flint L.
    J Inherit Metab Dis; 2020 Sep 18; 43(5):1121-1130. PubMed ID: 32369189
    [Abstract] [Full Text] [Related]

  • 15. 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 18; 127(1):12-22. PubMed ID: 30952622
    [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 18; 33(4):203-8. PubMed ID: 12368991
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. 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 13; 87(1):48-53. PubMed ID: 16288991
    [Abstract] [Full Text] [Related]

  • 19. When dysphoria is not a primary mental state: A case report of the role of the aromatic L-aminoacid decarboxylase.
    Portaro S, Gugliandolo A, Scionti D, Cammaroto S, Morabito R, Leonardi S, Fraggetta F, Bramanti P, Mazzon E.
    Medicine (Baltimore); 2018 Jun 13; 97(22):e10953. PubMed ID: 29851841
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

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