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Journal Abstract Search

319 related items for PubMed ID: 16750411

  • 21. 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; 65(1):35-43. PubMed ID: 9787093
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  • 22. 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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  • 29. Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.
    Lempp TJ, Suormala T, Siegenthaler R, Baumgartner ER, Fowler B, Steinmann B, Baumgartner MR.
    Mol Genet Metab; 2007 Mar 01; 90(3):284-90. PubMed ID: 17113806
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  • 31. [The neonatal acute form of methylmalonic acidemia. Report of 2 clinical cases].
    Giardini O, Marzetti G, Lubrano R, Laurenti F, Martino F, Mannarino O, D'Eufemia P, Ruberto U.
    Minerva Pediatr; 1980 Sep 15; 32(17):1039-46. PubMed ID: 6109233
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  • 32. 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 15; 130(3):183-196. PubMed ID: 32451238
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  • 33. Seven novel mutations in mut methylmalonic aciduria.
    Adjalla CE, Hosack AR, Gilfix BM, Lamothe E, Sun S, Chan A, Evans S, Matiaszuk NV, Rosenblatt DS.
    Hum Mutat; 1998 Jul 15; 11(4):270-4. PubMed ID: 9554742
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  • 34. Fetal progenitor cell transplantation treats methylmalonic aciduria in a mouse model.
    Buck NE, Pennell SD, Wood LR, Pitt JJ, Allen KJ, Peters HL.
    Biochem Biophys Res Commun; 2012 Oct 12; 427(1):30-5. PubMed ID: 22982631
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  • 35. A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut (0) methylmalonic acidemia.
    Vernon HJ, Sperati CJ, King JD, Poretti A, Miller NR, Sloan JL, Cameron AM, Myers D, Venditti CP, Valle D.
    J Inherit Metab Dis; 2014 Nov 12; 37(6):899-907. PubMed ID: 24961826
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  • 36. Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients.
    Mikami H, Ogasawara M, Matsubara Y, Kikuchi M, Miyabayashi S, Kure S, Narisawa K.
    J Hum Genet; 1999 Nov 12; 44(1):35-9. PubMed ID: 9929975
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  • 37. Screening for methylmalonic aciduria in Alberta: a voluntary program with particular significance for the Hutterite Brethren.
    Fowlow SB, Holmes TM, Morgan K, Snyder FF.
    Am J Med Genet; 1985 Nov 12; 22(3):513-9. PubMed ID: 2865895
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  • 38. Treatment of a methylmalonyl-CoA mutase stopcodon mutation.
    Buck NE, Wood LR, Hamilton NJ, Bennett MJ, Peters HL.
    Biochem Biophys Res Commun; 2012 Nov 02; 427(4):753-7. PubMed ID: 23041189
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  • 39. 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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  • 40. Methylmalonic acidemia.
    Cohen JJ.
    Kidney Int; 1979 Mar 01; 15(3):311-20. PubMed ID: 41966
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