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Journal Abstract Search

293 related items for PubMed ID: 29104221

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  • 4. Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency.
    Heuberger K, Bailey HJ, Burda P, Chaikuad A, Krysztofinska E, Suormala T, Bürer C, Lutz S, Fowler B, Froese DS, Yue WW, Baumgartner MR.
    Biochim Biophys Acta Mol Basis Dis; 2019 Jun 01; 1865(6):1265-1272. PubMed ID: 30682498
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  • 5. Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene.
    Waters PJ, Thuriot F, Clarke JT, Gravel S, Watkins D, Rosenblatt DS, Lévesque S.
    Mol Genet Metab Rep; 2016 Dec 01; 9():19-24. PubMed ID: 27699154
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  • 8. Methylmalonyl Coenzyme A (CoA) Epimerase Deficiency, an Ultra-Rare Cause of Isolated Methylmalonic Aciduria With Predominant Neurological Features.
    Diogo R, Rua IB, Ferreira S, Nogueira C, Pereira C, Rosmaninho-Salgado J, Diogo L.
    Cureus; 2023 Oct 01; 15(10):e48017. PubMed ID: 38034150
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  • 10. Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE).
    Gradinger AB, Bélair C, Worgan LC, Li CD, Lavallée J, Roquis D, Watkins D, Rosenblatt DS.
    Hum Mutat; 2007 Oct 01; 28(10):1045. PubMed ID: 17823972
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  • 13. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
    Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A.
    Orphanet J Rare Dis; 2014 Sep 02; 9():130. PubMed ID: 25205257
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  • 14. Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.
    Chu J, Pupavac M, Watkins D, Tian X, Feng Y, Chen S, Fenter R, Zhang VW, Wang J, Wong LJ, Rosenblatt DS.
    Mol Genet Metab; 2016 Aug 02; 118(4):264-71. PubMed ID: 27233228
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  • 15. A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.
    Armstrong AJ, Collado MS, Henke BR, Olson MW, Hoang SA, Hamilton CA, Pourtaheri TD, Chapman KA, Summar MM, Johns BA, Wamhoff BR, Reardon JE, Figler RA.
    Mol Genet Metab; 2021 May 02; 133(1):71-82. PubMed ID: 33741272
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  • 16. Methylmalonic/beta-hydroxy-n-valeric aciduria due to methylmalonyl-CoA mutase deficiency.
    Goodman SI, McCabe ER, Fennessey PV, Miles BS, Mace JW, Jellum E.
    Clin Chim Acta; 1978 Aug 01; 87(3):441-9. PubMed ID: 28187
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  • 17. Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up.
    Haarmann A, Mayr M, Kölker S, Baumgartner ER, Schnierda J, Hopfer H, Devuyst O, Baumgartner MR.
    Mol Genet Metab; 2013 Dec 01; 110(4):472-6. PubMed ID: 24095221
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  • 18. Acute neonatal nonketotic hyperglycinemia: normal propionate and methylmalonate metabolism.
    Baumgartner ER, Bachmann C, Brechbühler T, Wick H.
    Pediatr Res; 1975 Jul 01; 9(7):559-64. PubMed ID: 240144
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  • 19. The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.
    Pérez B, Angaroni C, Sánchez-Alcudia R, Merinero B, Pérez-Cerdá C, Specola N, Rodríguez-Pombo P, Wajner M, de Kremer RD, Cornejo V, Desviat LR, Ugarte M.
    J Inherit Metab Dis; 2010 Oct 01; 33(Suppl 2):S307-14. PubMed ID: 20549364
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  • 20. Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
    Reischl-Hajiabadi AT, Schnabel E, Gleich F, Mengler K, Lindner M, Burgard P, Posset R, Lommer-Steinhoff S, Grünert SC, Thimm E, Freisinger P, Hennermann JB, Krämer J, Gramer G, Lenz D, Christ S, Hörster F, Hoffmann GF, Garbade SF, Kölker S, Mütze U.
    J Inherit Metab Dis; 2024 Jul 01; 47(4):674-689. PubMed ID: 38563533
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