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Journal Abstract Search

387 related items for PubMed ID: 29335813

  • 1. Organic acidurias in adults: late complications and management.
    Tuncel AT, Boy N, Morath MA, Hörster F, Mütze U, Kölker S.
    J Inherit Metab Dis; 2018 Sep; 41(5):765-776. PubMed ID: 29335813
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  • 3. Impact of age at onset and newborn screening on outcome in organic acidurias.
    Heringer J, Valayannopoulos V, Lund AM, Wijburg FA, Freisinger P, Barić I, Baumgartner MR, Burgard P, Burlina AB, Chapman KA, I Saladelafont EC, Karall D, Mühlhausen C, Riches V, Schiff M, Sykut-Cegielska J, Walter JH, Zeman J, Chabrol B, Kölker S, additional individual contributors of the E-IMD consortium.
    J Inherit Metab Dis; 2016 May; 39(3):341-353. PubMed ID: 26689403
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  • 9. Toxic synergism between quinolinic acid and organic acids accumulating in glutaric acidemia type I and in disorders of propionate metabolism in rat brain synaptosomes: Relevance for metabolic acidemias.
    Colín-González AL, Paz-Loyola AL, Serratos I, Seminotti B, Ribeiro CA, Leipnitz G, Souza DO, Wajner M, Santamaría A.
    Neuroscience; 2015 Nov 12; 308():64-74. PubMed ID: 26343296
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  • 10. [Clinical and laboratory studies on 28 patients with glutaric aciduria type 1].
    Wang Q, Ding Y, Liu Y, Li X, Wu T, Song J, Wang Y, Yang Y.
    Zhonghua Er Ke Za Zhi; 2014 Jun 12; 52(6):415-9. PubMed ID: 25190159
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  • 11. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
    Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Garcia-Cazorla A.
    J Inherit Metab Dis; 2015 Nov 12; 38(6):1059-74. PubMed ID: 25875216
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  • 12. Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I.
    Sauer SW, Opp S, Hoffmann GF, Koeller DM, Okun JG, Kölker S.
    Brain; 2011 Jan 12; 134(Pt 1):157-70. PubMed ID: 20923787
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  • 13. Glutaric aciduria type 1--importance of early diagnosis and treatment.
    Afroze B, Yunus ZM.
    J Pak Med Assoc; 2014 May 12; 64(5):593-5. PubMed ID: 25272554
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  • 14. [Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1].
    Wang Q, Yang YL.
    Zhongguo Dang Dai Er Ke Za Zhi; 2016 May 12; 18(5):460-5. PubMed ID: 27165598
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  • 15. Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
    Boy N, Mühlhausen C, Maier EM, Ballhausen D, Baumgartner MR, Beblo S, Burgard P, Chapman KA, Dobbelaere D, Heringer-Seifert J, Fleissner S, Grohmann-Held K, Hahn G, Harting I, Hoffmann GF, Jochum F, Karall D, Konstantopoulous V, Krawinkel MB, Lindner M, Märtner EMC, Nuoffer JM, Okun JG, Plecko B, Posset R, Sahm K, Scholl-Bürgi S, Thimm E, Walter M, Williams M, Vom Dahl S, Ziagaki A, Zschocke J, Kölker S.
    J Inherit Metab Dis; 2023 May 12; 46(3):482-519. PubMed ID: 36221165
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  • 16. The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
    Märtner EMC, Thimm E, Guder P, Schiergens KA, Rutsch F, Roloff S, Marquardt I, Das AM, Freisinger P, Grünert SC, Krämer J, Baumgartner MR, Beblo S, Haase C, Dieckmann A, Lindner M, Näke A, Hoffmann GF, Mühlhausen C, Walter M, Garbade SF, Maier EM, Kölker S, Boy N.
    Sci Rep; 2021 Sep 29; 11(1):19300. PubMed ID: 34588557
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  • 19. Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt.
    Magdy RM, Abd-Elkhalek HS, Bakheet MA, Mohamed MM.
    Arch Pediatr; 2022 Jan 29; 29(1):36-43. PubMed ID: 34848132
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