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Journal Abstract Search

141 related items for PubMed ID: 12891654

  • 1. Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes.
    Swoboda KJ, Saul JP, McKenna CE, Speller NB, Hyland K.
    Ann Neurol; 2003; 54 Suppl 6():S49-55. PubMed ID: 12891654
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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]

  • 5. 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 06; 16(1):82-4. PubMed ID: 16409536
    [Abstract] [Full Text] [Related]

  • 6. 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 06; 91(4):374-8. PubMed ID: 17533144
    [Abstract] [Full Text] [Related]

  • 7. 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 06; 87(1):48-53. PubMed ID: 16288991
    [Abstract] [Full Text] [Related]

  • 8. 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 06; 90(4):363-9. PubMed ID: 17240182
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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 06; 38(10):959-963. PubMed ID: 27371992
    [Abstract] [Full Text] [Related]

  • 11. 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 Nov 06; 1(2-3):67-71. PubMed ID: 10728198
    [Abstract] [Full Text] [Related]

  • 12. A novel DDC gene deletion mutation in two Chinese mainland siblings with aromatic l-amino acid decarboxylase deficiency.
    Dai L, Ding C, Fang F.
    Brain Dev; 2019 Feb 06; 41(2):205-209. PubMed ID: 30144970
    [Abstract] [Full Text] [Related]

  • 13. Aromatic L-amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview.
    Dai W, Lu D, Gu X, Yu Y, Mainland Chinese League of AADC Rare Disease.
    Mol Genet Genomic Med; 2020 Mar 06; 8(3):e1143. PubMed ID: 31975548
    [Abstract] [Full Text] [Related]

  • 14. Spectrum of movement disorders associated with glutaric aciduria type 1: a study of 16 patients.
    Gitiaux C, Roze E, Kinugawa K, Flamand-Rouvière C, Boddaert N, Apartis E, Valayannopoulos V, Touati G, Motte J, Devos D, Mention K, Dobbelaere D, Rodriguez D, Roubertie A, Chabrol B, Feillet F, Vidailhet M, Bahi-Buisson N.
    Mov Disord; 2008 Dec 15; 23(16):2392-7. PubMed ID: 18823014
    [Abstract] [Full Text] [Related]

  • 15. 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 15; 12(6):349-54. PubMed ID: 9309516
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 33(3):113-7. PubMed ID: 12200739
    [Abstract] [Full Text] [Related]

  • 17. Combined general and regional anesthetic in a child with aromatic L-amino acid decarboxylase deficiency.
    Berkowitz DH, Ganesh A.
    Anesth Analg; 2006 Dec 15; 103(6):1630-1. PubMed ID: 17122302
    [No Abstract] [Full Text] [Related]

  • 18. Catecholamine toxicity in aromatic L-amino acid decarboxylase deficiency.
    Anselm IA, Darras BT.
    Pediatr Neurol; 2006 Aug 15; 35(2):142-4. PubMed ID: 16876014
    [Abstract] [Full Text] [Related]

  • 19. Aromatic L-Amino Acid Decarboxylase Deficiency: A Genetic Screening in Sicilian Patients with Neurological Disorders.
    Santa Paola S, Di Blasi FD, Borgione E, Lo Giudice M, Giuliano M, Pettinato R, Di Stefano V, Brighina F, Lupica A, Scuderi C.
    Genes (Basel); 2024 Jan 21; 15(1):. PubMed ID: 38275615
    [Abstract] [Full Text] [Related]

  • 20. [Inborn errors of neurotransmitters in neuropaediatrics].
    García-Cazorla A, Ormazábal A, Artuch R, Pérez-Dueñas B, López-Casas J, Fernández-Alvarez E, Campistol J.
    Rev Neurol; 2024 Jan 21; 41(2):99-108. PubMed ID: 16028189
    [Abstract] [Full Text] [Related]

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