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116 related items for PubMed ID: 36305448

  • 1. Persistent moderate methylmalonic aciduria in a patient with methylmalonyl CoA epimerase deficiency.
    Yazıcı H, Canda E, Onay H, Uçar SK, Habif S, Çoker M.
    Turk J Pediatr; 2022; 64(5):946-950. PubMed ID: 36305448
    [Abstract] [Full Text] [Related]

  • 2. Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria.
    Abily-Donval L, Torre S, Samson A, Sudrié-Arnaud B, Acquaviva C, Guerrot AM, Benoist JF, Marret S, Bekri S, Tebani A.
    Int J Mol Sci; 2017 Nov 01; 18(11):. PubMed ID: 29104221
    [Abstract] [Full Text] [Related]

  • 3. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.
    Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M.
    Hum Mutat; 2006 Jul 01; 27(7):640-3. PubMed ID: 16752391
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.
    Dobson CM, Gradinger A, Longo N, Wu X, Leclerc D, Lerner-Ellis J, Lemieux M, Belair C, Watkins D, Rosenblatt DS, Gravel RA.
    Mol Genet Metab; 2006 Aug 01; 88(4):327-33. PubMed ID: 16697227
    [Abstract] [Full Text] [Related]

  • 6. MCEE Mutations in an Adult Patient with Parkinson's Disease, Dementia, Stroke and Elevated Levels of Methylmalonic Acid.
    Andréasson M, Zetterström RH, von Döbeln U, Wedell A, Svenningsson P.
    Int J Mol Sci; 2019 May 29; 20(11):. PubMed ID: 31146325
    [Abstract] [Full Text] [Related]

  • 7. 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 29; 15(10):e48017. PubMed ID: 38034150
    [Abstract] [Full Text] [Related]

  • 8. Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism.
    Chandler RJ, Aswani V, Tsai MS, Falk M, Wehrli N, Stabler S, Allen R, Sedensky M, Kazazian HH, Venditti CP.
    Mol Genet Metab; 2006 Oct 29; 89(1-2):64-73. PubMed ID: 16843692
    [Abstract] [Full Text] [Related]

  • 9. 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 29; 110(4):472-6. PubMed ID: 24095221
    [Abstract] [Full Text] [Related]

  • 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 29; 28(10):1045. PubMed ID: 17823972
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. Isolated methylmalonic acidemia: a case report.
    Es Sadki T, Badiou S, Boubal M, Baleine J, Sieso V, Vallat C, Cristol JP, Vianey-Saban C, Cambonie G.
    Ann Biol Clin (Paris); 2016 Aug 01; 74(4):472-6. PubMed ID: 27492701
    [Abstract] [Full Text] [Related]

  • 13. [MOLECULAR-GENETIC ASPECTS OF METHYLMALONIC ACIDURIA DEVELOPMENT (REVIEW)].
    Zharmakhanova G, Syrlybayeva L, Kononets V, Nurbaulina E, Baikadamova L.
    Georgian Med News; 2021 Apr 01; (313):118-124. PubMed ID: 34103442
    [Abstract] [Full Text] [Related]

  • 14. Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.
    Collado MS, Armstrong AJ, Olson M, Hoang SA, Day N, Summar M, Chapman KA, Reardon J, Figler RA, Wamhoff BR.
    Mol Genet Metab; 2020 Jul 01; 130(3):183-196. PubMed ID: 32451238
    [Abstract] [Full Text] [Related]

  • 15. Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report.
    Maines E, Franceschi R, Rivieri F, Piccoli G, Schulte B, Hoffmann J, Bordugo A, Rodella G, Teofoli F, Vincenzi M, Soffiati M, Camilot M.
    Int J Neonatal Screen; 2024 Jul 18; 10(3):. PubMed ID: 39051409
    [Abstract] [Full Text] [Related]

  • 16. [Methylmalonic aciduria. Classification, diagnosis and therapy (author's transl)].
    Leupold D.
    Klin Wochenschr; 1977 Jan 15; 55(2):57-63. PubMed ID: 319293
    [Abstract] [Full Text] [Related]

  • 17. Liver neoplasms in methylmalonic aciduria: An emerging complication.
    Forny P, Hochuli M, Rahman Y, Deheragoda M, Weber A, Baruteau J, Grunewald S.
    J Inherit Metab Dis; 2019 Sep 15; 42(5):793-802. PubMed ID: 31260114
    [Abstract] [Full Text] [Related]

  • 18. A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy.
    Rossi C, Cicalini I, Rizzo C, Zucchelli M, Consalvo A, Valentinuzzi S, Semeraro D, Gasparroni G, Brindisino P, Gazzolo D, Dionisi-Vici C, De Laurenzi V, Pieragostino D.
    Int J Environ Res Public Health; 2020 May 20; 17(10):. PubMed ID: 32443888
    [Abstract] [Full Text] [Related]

  • 19. Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency.
    Almási T, Guey LT, Lukacs C, Csetneki K, Vokó Z, Zelei T.
    Orphanet J Rare Dis; 2019 Apr 25; 14(1):84. PubMed ID: 31023387
    [Abstract] [Full Text] [Related]

  • 20. [Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria].
    Liu YP, Ma YY, Wu TF, Wang Q, Li XY, Ding Y, Song JQ, Huang Y, Yang YL.
    Zhonghua Er Ke Za Zhi; 2012 Jun 25; 50(6):410-4. PubMed ID: 22931934
    [Abstract] [Full Text] [Related]

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