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Journal Abstract Search

229 related items for PubMed ID: 30614627

  • 21. 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
    [Abstract] [Full Text] [Related]

  • 22. 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]

  • 23. 3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency.
    Chien YH, Chen PW, Lee NC, Hsieh WS, Chiu PC, Hwu WL, Tsai FJ, Lin SP, Chu SY, Jong YJ, Chao MC.
    Mol Genet Metab; 2016 Aug; 118(4):259-63. PubMed ID: 27216367
    [Abstract] [Full Text] [Related]

  • 24. AADC deficiency: occurring in humans, modeled in rodents.
    Hwu WL, Lee NC, Chien YH, Muramatsu S, Ichinose H.
    Adv Pharmacol; 2013 Aug; 68():273-84. PubMed ID: 24054149
    [Abstract] [Full Text] [Related]

  • 25. 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
    [Abstract] [Full Text] [Related]

  • 26. Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency.
    Brennenstuhl H, Garbade SF, Okun JG, Feyh P, Hoffmann GF, Langhans CD, Opladen T.
    Mol Genet Metab; 2020 Jun; 131(1-2):163-170. PubMed ID: 32675002
    [Abstract] [Full Text] [Related]

  • 27. 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; 133(1):56-62. PubMed ID: 33744095
    [Abstract] [Full Text] [Related]

  • 28. 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; 139(3):107624. PubMed ID: 37348148
    [Abstract] [Full Text] [Related]

  • 29. Neurodegenerative Etiology of Aromatic L-Amino Acid Decarboxylase Deficiency: a Novel Concept for Expanding Treatment Strategies.
    Sternberg Z.
    Mol Neurobiol; 2024 May; 61(5):2996-3018. PubMed ID: 37953352
    [Abstract] [Full Text] [Related]

  • 30. 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
    [Abstract] [Full Text] [Related]

  • 31. 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]

  • 32. 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 17; 70(3):215-223. PubMed ID: 29356298
    [Abstract] [Full Text] [Related]

  • 33. 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 17; 97(22):e10953. PubMed ID: 29851841
    [Abstract] [Full Text] [Related]

  • 34. Acceleration of rare disease therapeutic development: a case study of AGIL-AADC.
    Das S, Huang S, Lo AW.
    Drug Discov Today; 2019 Mar 17; 24(3):678-684. PubMed ID: 30610920
    [Abstract] [Full Text] [Related]

  • 35. 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]

  • 36. 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 02; 30(2):509-518. PubMed ID: 34763085
    [Abstract] [Full Text] [Related]

  • 37. [Clinical and genetic analysis of two pedigrees affected with aromatic L-amino acid decarboxylase deficiency].
    Wang Y, Ke Z, Zou H, Lin M, Qiu M, Gu W, Chen Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Nov 10; 36(11):1085-1089. PubMed ID: 31703131
    [Abstract] [Full Text] [Related]

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

  • 39. 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 10; 43(5):1121-1130. PubMed ID: 32369189
    [Abstract] [Full Text] [Related]

  • 40. Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry.
    Montioli R, Borri Voltattorni C.
    Int J Mol Sci; 2021 Mar 19; 22(6):. PubMed ID: 33808712
    [Abstract] [Full Text] [Related]

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