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Journal Abstract Search

163 related items for PubMed ID: 32409695

  • 1. 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]

  • 2. 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; 8(3):e1143. PubMed ID: 31975548
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  • 4. 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
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  • 6. 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
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  • 7. 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; 43(10):1023-1028. PubMed ID: 34481663
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  • 9. 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
    [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
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  • 11. 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 18; 141(3):108148. PubMed ID: 38302374
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  • 12. 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
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  • 13. 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]

  • 14. Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations.
    Himmelreich N, Montioli R, Garbade SF, Kopesky J, Elsea SH, Carducci C, Voltattorni CB, Blau N.
    Mol Genet Metab; 2022 Dec 17; 137(4):359-381. PubMed ID: 36427457
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  • 15. 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 17; 43(5):1121-1130. PubMed ID: 32369189
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  • 16. 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 17; 182(6):2535-2545. PubMed ID: 36928758
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  • 17. Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
    Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Hübschmann OK, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N, Kasapkara ÇS, Kurian MA, Kusmierska K, Liu N, Ngu LH, Odom JD, Ong WP, Opladen T, Oppeboen M, Pearl PL, Pérez B, Pons R, Rygiel AM, Shien TE, Spaull R, Sykut-Cegielska J, Tabarki B, Tangeraas T, Thöny B, Wassenberg T, Wen Y, Yakob Y, Yin JGC, Zeman J, Blau N.
    Mol Genet Metab; 2023 Jul 17; 139(3):107624. PubMed ID: 37348148
    [Abstract] [Full Text] [Related]

  • 18. Case report: discovery of 2 gene variants for aromatic L-amino acid decarboxylase deficiency in 2 African American siblings.
    Monteleone B, Hyland K.
    BMC Neurol; 2020 Jan 09; 20(1):12. PubMed ID: 31918669
    [Abstract] [Full Text] [Related]

  • 19. 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 09; 181(2):226-229. PubMed ID: 30614627
    [Abstract] [Full Text] [Related]

  • 20. Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up.
    Manegold C, Hoffmann GF, Degen I, Ikonomidou H, Knust A, Laass MW, Pritsch M, Wilichowski E, Hörster F.
    J Inherit Metab Dis; 2009 Jun 09; 32(3):371-80. PubMed ID: 19172410
    [Abstract] [Full Text] [Related]

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