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302 related items for PubMed ID: 15079002

  • 21. 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]

  • 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 05; 65(9):759-769. PubMed ID: 32409695
    [Abstract] [Full Text] [Related]

  • 23. 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]

  • 24. Simultaneous determination of 5-hydroxytryptophan and 3-O-methyldopa in dried blood spot by UPLC-MS/MS: A useful tool for the diagnosis of L-amino acid decarboxylase deficiency.
    Di Carlo E, Santagata S, Sauro L, Tolve M, Manti F, Leuzzi V, Angeloni A, Carducci C.
    J Chromatogr B Analyt Technol Biomed Life Sci; 2021 Nov 15; 1185():122999. PubMed ID: 34715572
    [Abstract] [Full Text] [Related]

  • 25. 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 15; 43(10):1023-1028. PubMed ID: 34481663
    [Abstract] [Full Text] [Related]

  • 26. Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies.
    Fiumara A, Bräutigam C, Hyland K, Sharma R, Lagae L, Stoltenborg B, Hoffmann GF, Jaeken J, Wevers RA.
    Neuropediatrics; 2002 Aug 15; 33(4):203-8. PubMed ID: 12368991
    [Abstract] [Full Text] [Related]

  • 27. Unusually mild phenotype of AADC deficiency in 2 siblings.
    Tay SK, Poh KS, Hyland K, Pang YW, Ong HT, Low PS, Goh DL.
    Mol Genet Metab; 2007 Aug 15; 91(4):374-8. PubMed ID: 17533144
    [Abstract] [Full Text] [Related]

  • 28. High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots.
    Brennenstuhl H, Kohlmüller D, Gramer G, Garbade SF, Syrbe S, Feyh P, Kölker S, Okun JG, Hoffmann GF, Opladen T.
    J Inherit Metab Dis; 2020 May 15; 43(3):602-610. PubMed ID: 31849064
    [Abstract] [Full Text] [Related]

  • 29. 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 May 15; 131(1-2):163-170. PubMed ID: 32675002
    [Abstract] [Full Text] [Related]

  • 30. 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]

  • 31. Transdermal rotigotine in the treatment of aromatic L-amino acid decarboxylase deficiency.
    Mastrangelo M, Caputi C, Galosi S, Giannini MT, Leuzzi V.
    Mov Disord; 2013 Apr 15; 28(4):556-7. PubMed ID: 23390030
    [No Abstract] [Full Text] [Related]

  • 32. Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a second family.
    Maller A, Hyland K, Milstien S, Biaggioni I, Butler IJ.
    J Child Neurol; 1997 Sep 15; 12(6):349-54. PubMed ID: 9309516
    [Abstract] [Full Text] [Related]

  • 33. Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology.
    Hyland K, Clayton PT.
    Clin Chem; 1992 Dec 15; 38(12):2405-10. PubMed ID: 1281049
    [Abstract] [Full Text] [Related]

  • 34. Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency.
    Swoboda KJ, Hyland K, Goldstein DS, Kuban KC, Arnold LA, Holmes CS, Levy HL.
    Neurology; 1999 Oct 12; 53(6):1205-11. PubMed ID: 10522874
    [Abstract] [Full Text] [Related]

  • 35. Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency.
    Ide S, Sasaki M, Kato M, Shiihara T, Kinoshita S, Takahashi JY, Goto Y.
    Brain Dev; 2010 Jun 12; 32(6):506-10. PubMed ID: 19520530
    [Abstract] [Full Text] [Related]

  • 36. 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 12; 43(5):1121-1130. PubMed ID: 32369189
    [Abstract] [Full Text] [Related]

  • 37. Microstructural changes of brain in patients with aromatic L-amino acid decarboxylase deficiency.
    Lee WT, Lin JH, Weng WC, Peng SS.
    Hum Brain Mapp; 2017 Mar 12; 38(3):1532-1540. PubMed ID: 27859928
    [Abstract] [Full Text] [Related]

  • 38. 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]

  • 39. Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency.
    Kojima K, Nakajima T, Taga N, Miyauchi A, Kato M, Matsumoto A, Ikeda T, Nakamura K, Kubota T, Mizukami H, Ono S, Onuki Y, Sato T, Osaka H, Muramatsu SI, Yamagata T.
    Brain; 2019 Feb 01; 142(2):322-333. PubMed ID: 30689738
    [Abstract] [Full Text] [Related]

  • 40. Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency.
    Bräutigam C, Hyland K, Wevers R, Sharma R, Wagner L, Stock GJ, Heitmann F, Hoffmann GF.
    Neuropediatrics; 2002 Jun 01; 33(3):113-7. PubMed ID: 12200739
    [Abstract] [Full Text] [Related]

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