BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

204 related articles for article (PubMed ID: 30260058)

  • 1. 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]  

  • 2. 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; 181(2):226-229. PubMed ID: 30614627
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculations.
    Reischl-Hajiabadi AT; Okun JG; Kohlmüller D; Manukjan G; Hegert S; Durner J; Schuhmann E; Hörster F; Mütze U; Feyh P; Hoffmann GF; Röschinger W; Janzen N; Opladen T
    Mol Genet Metab; 2024 Mar; 141(3):108148. PubMed ID: 38302374
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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;
    Mol Genet Genomic Med; 2020 Mar; 8(3):e1143. PubMed ID: 31975548
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene.
    Lee NC; Lee YM; Chen PW; Byrne BJ; Hwu WL
    Hum Mol Genet; 2016 Dec; 25(23):5142-5147. PubMed ID: 27658936
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Heterozygosis in aromatic amino acid decarboxylase deficiency: Evidence for a positive interallelic complementation between R347Q and R358H mutations.
    Montioli R; Janson G; Paiardini A; Bertoldi M; Borri Voltattorni C
    IUBMB Life; 2018 Mar; 70(3):215-223. PubMed ID: 29356298
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry.
    Montioli R; Borri Voltattorni C
    Int J Mol Sci; 2021 Mar; 22(6):. PubMed ID: 33808712
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Prevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations.
    Hyland K; Reott M
    Pediatr Neurol; 2020 May; 106():38-42. PubMed ID: 32111562
    [TBL] [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; 26(22):4406-4415. PubMed ID: 28973165
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 15(1):. PubMed ID: 38275615
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Burden of illness of aromatic L-amino acid decarboxylase deficiency: a survey of physicians in Southern Europe.
    Saberian S; Rowan P; Hammes F; Patel P; Fernandez-Cortes F; Buesch K; Beitia Ortiz de Zarate I
    Curr Med Res Opin; 2022 Jul; 38(7):1115-1123. PubMed ID: 35575170
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications.
    Montioli R; Dindo M; Giorgetti A; Piccoli S; Cellini B; Voltattorni CB
    Hum Mol Genet; 2014 Oct; 23(20):5429-40. PubMed ID: 24865461
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular characteristic and physiological role of DOPA-decarboxylase.
    Guenter J; Lenartowski R
    Postepy Hig Med Dosw (Online); 2016 Dec; 70(0):1424-1440. PubMed ID: 28100850
    [TBL] [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; 97(22):e10953. PubMed ID: 29851841
    [TBL] [Abstract][Full Text] [Related]  

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

  • 19. A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies.
    Montioli R; Battini R; Paiardini A; Tolve M; Bertoldi M; Carducci C; Leuzzi V; Borri Voltattorni C
    Mol Genet Metab; 2019 Jun; 127(2):132-137. PubMed ID: 31104889
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Regulation of the dopaminergic system in a murine model of aromatic L-amino acid decarboxylase deficiency.
    Lee NC; Shieh YD; Chien YH; Tzen KY; Yu IS; Chen PW; Hu MH; Hu MK; Muramatsu S; Ichinose H; Hwu WL
    Neurobiol Dis; 2013 Apr; 52():177-90. PubMed ID: 23275025
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.