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Journal Abstract Search

162 related items for PubMed ID: 9686366

  • 1. Aromatic L-amino acid decarboxylase deficiency: a new case with a mild clinical presentation and unexpected laboratory findings.
    Abeling NG, van Gennip AH, Barth PG, van Cruchten A, Westra M, Wijburg FA.
    J Inherit Metab Dis; 1998 Jun; 21(3):240-2. PubMed ID: 9686366
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  • 2. 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]

  • 3. 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; 28(4):556-7. PubMed ID: 23390030
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  • 4. 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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  • 8. A rare cause of severe diarrhoea diagnosed by urine metabolic screening: aromatic L-amino acid decarboxylase deficiency.
    Lee LK, Cheung KM, Cheng WW, Ko CH, Lee HH, Ching CK, Mak C.
    Hong Kong Med J; 2014 Apr 18; 20(2):161-4. PubMed ID: 24714172
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  • 9. Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis.
    Abdenur JE, Abeling N, Specola N, Jorge L, Schenone AB, van Cruchten AC, Chamoles NA.
    Mol Genet Metab; 2006 Jan 18; 87(1):48-53. PubMed ID: 16288991
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  • 11. Gene therapy for aromatic L-amino acid decarboxylase deficiency.
    Zwagerman NT, Richardson RM.
    Neurosurgery; 2012 Oct 18; 71(4):N10-2. PubMed ID: 22989964
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  • 12. Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus.
    Fusco C, Leuzzi V, Striano P, Battini R, Burlina A, Delphi panel experts’ group, Spagnoli C.
    Ital J Pediatr; 2021 Jan 21; 47(1):13. PubMed ID: 33478565
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  • 13. Estimating the prevalence of ultra-rare inherited metabolic disorders: Aromatic amino acid decarboxylase (AADC) deficiency.
    Blau N.
    Mol Genet Metab; 2024 Mar 21; 141(3):108150. PubMed ID: 38302375
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  • 14. Clinical Metabolomics to Segregate Aromatic Amino Acid Decarboxylase Deficiency From Drug-Induced Metabolite Elevations.
    Pappan KL, Kennedy AD, Magoulas PL, Hanchard NA, Sun Q, Elsea SH.
    Pediatr Neurol; 2017 Oct 21; 75():66-72. PubMed ID: 28823629
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  • 15. Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma.
    Atwal PS, Donti TR, Cardon AL, Bacino CA, Sun Q, Emrick L, Reid Sutton V, Elsea SH.
    Mol Genet Metab; 2015 Oct 21; 115(2-3):91-4. PubMed ID: 25956449
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  • 16. 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 21; 91(4):374-8. PubMed ID: 17533144
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  • 19. 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 21; 38(10):959-963. PubMed ID: 27371992
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  • 20. [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
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