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145 related items for PubMed ID: 27699154

  • 21. 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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  • 23. Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia.
    Şeker Yılmaz B, Kor D, Bulut FD, Kılavuz S, Ceylaner S, Önenli Mungan HN.
    Turk J Med Sci; 2021 Jun 28; 51(3):1220-1228. PubMed ID: 33453710
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  • 24. Epimerase (Msed_0639) and mutase (Msed_0638 and Msed_2055) convert (S)-methylmalonyl-coenzyme A (CoA) to succinyl-CoA in the Metallosphaera sedula 3-hydroxypropionate/4-hydroxybutyrate cycle.
    Han Y, Hawkins AS, Adams MW, Kelly RM.
    Appl Environ Microbiol; 2012 Sep 28; 78(17):6194-202. PubMed ID: 22752162
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  • 25. Evidence for catabolic pathway of propionate metabolism in CNS: expression pattern of methylmalonyl-CoA mutase and propionyl-CoA carboxylase alpha-subunit in developing and adult rat brain.
    Ballhausen D, Mittaz L, Boulat O, Bonafé L, Braissant O.
    Neuroscience; 2009 Dec 01; 164(2):578-87. PubMed ID: 19699272
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  • 29. Multi-factorial engineering of heterologous polyketide production in Escherichia coli reveals complex pathway interactions.
    Boghigian BA, Zhang H, Pfeifer BA.
    Biotechnol Bioeng; 2011 Jun 01; 108(6):1360-71. PubMed ID: 21337322
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  • 30. Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle.
    Chandler RJ, Sloan J, Fu H, Tsai M, Stabler S, Allen R, Kaestner KH, Kazazian HH, Venditti CP.
    BMC Med Genet; 2007 Oct 15; 8():64. PubMed ID: 17937813
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  • 31. Label-Free Quantitative Proteomics in a Methylmalonyl-CoA Mutase-Silenced Neuroblastoma Cell Line.
    Costanzo M, Cevenini A, Marchese E, Imperlini E, Raia M, Del Vecchio L, Caterino M, Ruoppolo M.
    Int J Mol Sci; 2018 Nov 13; 19(11):. PubMed ID: 30428564
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  • 32. The error in the cryptic stereospecificity of methylmalonyl-CoA mutase. The use of carba-(dethia)-coenzyme A substrate analogues gives new insight into the enzyme mechanism.
    Hull WE, Michenfelder M, Rétey J.
    Eur J Biochem; 1988 Apr 05; 173(1):191-201. PubMed ID: 2895708
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  • 33. Recognition, isolation, and characterization of rat liver D-methylmalonyl coenzyme A hydrolase.
    Kovachy RJ, Copley SD, Allen RH.
    J Biol Chem; 1983 Sep 25; 258(18):11415-21. PubMed ID: 6885824
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  • 34. Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria.
    Wongkittichote P, Cunningham G, Summar ML, Pumbo E, Forny P, Baumgartner MR, Chapman KA.
    Mol Genet Metab; 2019 Dec 25; 128(4):444-451. PubMed ID: 31648943
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  • 35. Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency.
    Keyfi F, Sankian M, Moghaddassian M, Rolfs A, Varasteh AR.
    Gene; 2016 Jan 15; 576(1 Pt 2):208-13. PubMed ID: 26449400
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  • 36. [The phenotypes and genotypes in 314 patients with isolated methylmalonic acidemia].
    Kang LL, Liu YP, Shen M, Chen ZH, Song JQ, He RX, Liu Y, Zhang Y, Dong H, Li MQ, Jin Y, Zheng H, Wang Q, Ding Y, Li XY, Li DX, Li HX, Liu XQ, Xiao HJ, Jiang YW, Xiong H, Zhang CY, Wang ZX, Yuan Y, Liang DS, Tian YP, Yang YL.
    Zhonghua Er Ke Za Zhi; 2020 Jun 02; 58(6):468-475. PubMed ID: 32521958
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  • 37. Methylmalonic semialdehyde dehydrogenase deficiency: psychomotor delay and methylmalonic aciduria without metabolic decompensation.
    Roe CR, Struys E, Kok RM, Roe DS, Harris RA, Jakobs C.
    Mol Genet Metab; 1998 Sep 02; 65(1):35-43. PubMed ID: 9787093
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  • 38. 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
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  • 39. HPLC assay for methylmalonyl-CoA epimerase.
    Bobik TA, Rasche ME.
    Anal Bioanal Chem; 2003 Feb 25; 375(3):344-9. PubMed ID: 12589497
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  • 40. Metabolic engineering of a methylmalonyl-CoA mutase-epimerase pathway for complex polyketide biosynthesis in Escherichia coli.
    Dayem LC, Carney JR, Santi DV, Pfeifer BA, Khosla C, Kealey JT.
    Biochemistry; 2002 Apr 23; 41(16):5193-201. PubMed ID: 11955068
    [Abstract] [Full Text] [Related]

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