These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

232 related articles for article (PubMed ID: 19520530)

  • 61. Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome.
    Pérez-Dueñas B; Prior C; Ma Q; Fernández-Alvarez E; Setoain X; Artuch R; Pascual JM
    Arch Neurol; 2009 Nov; 66(11):1410-4. PubMed ID: 19901175
    [TBL] [Abstract][Full Text] [Related]  

  • 62. Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency.
    Tseng CH; Chien YH; Lee NC; Hsu YC; Peng SF; Tseng WI; Hwu WL
    Ann Neurol; 2019 May; 85(5):644-652. PubMed ID: 30864153
    [TBL] [Abstract][Full Text] [Related]  

  • 63. Molecular insights into the pathogenicity of variants associated with the aromatic amino acid decarboxylase deficiency.
    Montioli R; Cellini B; Borri Voltattorni C
    J Inherit Metab Dis; 2011 Dec; 34(6):1213-24. PubMed ID: 21541720
    [TBL] [Abstract][Full Text] [Related]  

  • 64. The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: biochemical findings in two patients.
    Bräutigam C; Wevers RA; Hyland K; Sharma RK; Knust A; Hoffman GF
    J Inherit Metab Dis; 2000 Jun; 23(4):321-4. PubMed ID: 10896284
    [No Abstract]   [Full Text] [Related]  

  • 65. Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency.
    Tai CH; Lee NC; Chien YH; Byrne BJ; Muramatsu SI; Tseng SH; Hwu WL
    Mol Ther; 2022 Feb; 30(2):509-518. PubMed ID: 34763085
    [TBL] [Abstract][Full Text] [Related]  

  • 66. S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine.
    Montioli R; Oppici E; Cellini B; Roncador A; Dindo M; Voltattorni CB
    Hum Mol Genet; 2013 Apr; 22(8):1615-24. PubMed ID: 23321058
    [TBL] [Abstract][Full Text] [Related]  

  • 67. 3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy.
    Wortmann SB; Kremer BH; Graham A; Willemsen MA; Loupatty FJ; Hogg SL; Engelke UF; Kluijtmans LA; Wanders RJ; Illsinger S; Wilcken B; Cruysberg JR; Das AM; Morava E; Wevers RA
    Neurology; 2010 Sep; 75(12):1079-83. PubMed ID: 20855850
    [TBL] [Abstract][Full Text] [Related]  

  • 68. 3-Methylglutaconic aciduria type I causes leukoencephalopathy of adult onset.
    Eriguchi M; Mizuta H; Kurohara K; Kosugi M; Yakushiji Y; Okada R; Yukitake M; Hasegawa Y; Yamaguchi S; Kuroda Y
    Neurology; 2006 Nov; 67(10):1895-6. PubMed ID: 17130438
    [No Abstract]   [Full Text] [Related]  

  • 69. Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant.
    Graziano C; Wischmeijer A; Pippucci T; Fusco C; Diquigiovanni C; Nõukas M; Sauk M; Kurg A; Rivieri F; Blau N; Hoffmann GF; Chaubey A; Schwartz CE; Romeo G; Bonora E; Garavelli L; Seri M
    Gene; 2015 Apr; 559(2):144-8. PubMed ID: 25597765
    [TBL] [Abstract][Full Text] [Related]  

  • 70. 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; 63(6):571-573. PubMed ID: 38460745
    [TBL] [Abstract][Full Text] [Related]  

  • 71. Antisense oligonucleotides modulate dopa decarboxylase function in aromatic l-amino acid decarboxylase deficiency.
    Tsai CR; Lee HF; Chi CS; Yang MT; Hsu CC
    Hum Mutat; 2018 Dec; 39(12):2072-2082. PubMed ID: 30260058
    [TBL] [Abstract][Full Text] [Related]  

  • 72. Levodopa-responsive aromatic L-amino acid decarboxylase deficiency.
    Chang YT; Sharma R; Marsh JL; McPherson JD; Bedell JA; Knust A; Bräutigam C; Hoffmann GF; Hyland K
    Ann Neurol; 2004 Mar; 55(3):435-8. PubMed ID: 14991824
    [TBL] [Abstract][Full Text] [Related]  

  • 73. Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis.
    Al-Hassnan ZN; Rashed MS; Al-Dirbashi OY; Patay Z; Rahbeeni Z; Abu-Amero KK
    J Neurol Sci; 2008 Jan; 264(1-2):187-94. PubMed ID: 17825324
    [TBL] [Abstract][Full Text] [Related]  

  • 74. 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; 50(11):876-8. PubMed ID: 18754761
    [TBL] [Abstract][Full Text] [Related]  

  • 75. Eladocagene Exuparvovec: First Approval.
    Keam SJ
    Drugs; 2022 Sep; 82(13):1427-1432. PubMed ID: 36103022
    [TBL] [Abstract][Full Text] [Related]  

  • 76. Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area.
    Ling TK; Wong KC; Chan CY; Lau NK; Law CY; Lee HH; Lai CK; Chong YK; Yau KE; Cheung KM; Ko CH; Fung CW; Lee LK; Wong SS; Mak CM; Chan AY; Tam S; Lam CW
    Clin Chim Acta; 2021 Oct; 521():40-44. PubMed ID: 34161777
    [TBL] [Abstract][Full Text] [Related]  

  • 77. Preimplantation and prenatal genetic diagnosis of aromatic L-amino acid decarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reaction.
    Kuo SJ; Ma GC; Chang SP; Wu HH; Chen CP; Chang TM; Lin WH; Wu SH; Lee MH; Hwu WL; Chen M
    Taiwan J Obstet Gynecol; 2011 Dec; 50(4):468-73. PubMed ID: 22212319
    [TBL] [Abstract][Full Text] [Related]  

  • 78. Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling.
    Koshimizu E; Kato M; Misawa K; Uchiyama Y; Tsuchida N; Hamanaka K; Fujita A; Mizuguchi T; Miyatake S; Matsumoto N
    J Hum Genet; 2024 Apr; 69(3-4):153-157. PubMed ID: 38216729
    [TBL] [Abstract][Full Text] [Related]  

  • 79. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 80. 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; 16(1):82-4. PubMed ID: 16409536
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.