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Journal Abstract Search

163 related items for PubMed ID: 36928758

  • 1. Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.
    Abukhaled M, Al Muqbil M, Alghamdi MA, Hundallah K, Suleiman J, Ben-Omran T, Alfadhel M, Almannai M, Alsaleh R, Tabarki B.
    Eur J Pediatr; 2023 Jun; 182(6):2535-2545. PubMed ID: 36928758
    [Abstract] [Full Text] [Related]

  • 2. 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; 127(1):12-22. PubMed ID: 30952622
    [Abstract] [Full Text] [Related]

  • 3. Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disorders.
    Riva A, Iacomino M, Piccardo C, Franceschetti L, Franchini R, Baroni A, Minetti C, Bisello G, Zara F, Scala M, Striano P, Bertoldi M.
    Biochem Biophys Res Commun; 2023 Sep 17; 673():131-136. PubMed ID: 37385007
    [Abstract] [Full Text] [Related]

  • 4. Prevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations.
    Hyland K, Reott M.
    Pediatr Neurol; 2020 May 17; 106():38-42. PubMed ID: 32111562
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  • 6. Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype.
    Hasegawa Y, Nishi E, Mishima Y, Sakaguchi T, Sekiguchi F, Miyake N, Kojima K, Osaka H, Matsumoto N, Okamoto N.
    Brain Dev; 2021 Nov 17; 43(10):1023-1028. PubMed ID: 34481663
    [Abstract] [Full Text] [Related]

  • 7. 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 17; 75():66-72. PubMed ID: 28823629
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  • 9. Aromatic L-amino acid decarboxylase deficiency in Taiwan.
    Lee HF, Tsai CR, Chi CS, Chang TM, Lee HJ.
    Eur J Paediatr Neurol; 2009 Mar 17; 13(2):135-40. PubMed ID: 18567514
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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 13; 38(10):959-963. PubMed ID: 27371992
    [Abstract] [Full Text] [Related]

  • 12. A pathogenic S250F missense mutation results in a mouse model of mild aromatic l-amino acid decarboxylase (AADC) deficiency.
    Caine C, Shohat M, Kim JK, Nakanishi K, Homma S, Mosharov EV, Monani UR.
    Hum Mol Genet; 2017 Nov 15; 26(22):4406-4415. PubMed ID: 28973165
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Selective Serotonin Reuptake Inhibitor Treatment Post Gene Therapy for an Ultrarare Neurometabolic Disorder (AADC Deficiency).
    Baribeau DA, Vorstman JAS, Pearson TS.
    J Am Acad Child Adolesc Psychiatry; 2024 Jun 18; 63(6):571-573. PubMed ID: 38460745
    [Abstract] [Full Text] [Related]

  • 15. A position statement on the post gene-therapy rehabilitation of aromatic I-amino acid decarboxylase deficiency patients.
    Lee HM, Mercimek-Andrews S, Horvath G, Marchese D, Poulin RE, Krolick A, Tierney KL, Turna J, Wei J, Hwu WL.
    Orphanet J Rare Dis; 2024 Jan 18; 19(1):17. PubMed ID: 38238766
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. 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 18; 97(22):e10953. PubMed ID: 29851841
    [Abstract] [Full Text] [Related]

  • 18. A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan.
    Lee NC, Chien YH, Hwu WL.
    Am J Med Genet C Semin Med Genet; 2019 Jun 18; 181(2):226-229. PubMed ID: 30614627
    [Abstract] [Full Text] [Related]

  • 19. 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 18; 41(2):205-209. PubMed ID: 30144970
    [Abstract] [Full Text] [Related]

  • 20. Mild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old Girl.
    Yoldaş Çelik M, Canda E, Yazıcı H, Erdem F, Yüksel Yanbolu A, Aykut A, Durmaz A, Anık A, Kalkan Uçar S, Çoker M.
    J Clin Res Pediatr Endocrinol; 2024 Sep 05; 16(3):361-366. PubMed ID: 36598177
    [Abstract] [Full Text] [Related]

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