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Journal Abstract Search

260 related items for PubMed ID: 16186538

  • 21. Mutation analysis of the MCM gene in Israeli patients with mut(0) disease.
    Berger I, Shaag A, Anikster Y, Baumgartner ER, Bar-Meir M, Joseph A, Elpeleg ON.
    Mol Genet Metab; 2001 May; 73(1):107-10. PubMed ID: 11350191
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  • 22. 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; 27(7):640-3. PubMed ID: 16752391
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  • 23. [Isolated methylmalonyl-CoA mutase deficiency].
    Yoshino M.
    Ryoikibetsu Shokogun Shirizu; 1998 Jul; (18 Pt 1):269-72. PubMed ID: 9590044
    [No Abstract] [Full Text] [Related]

  • 24. Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene.
    Bruno C, Cassandrini D, Fattori F, Pedemonte M, Fiorillo C, Brigati G, Brisca G, Minetti C, Santorelli FM.
    Biochem Biophys Res Commun; 2011 Sep 09; 412(4):518-21. PubMed ID: 21741368
    [Abstract] [Full Text] [Related]

  • 25. 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 09; 118(4):264-71. PubMed ID: 27233228
    [Abstract] [Full Text] [Related]

  • 26. 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 09; 28(10):1045. PubMed ID: 17823972
    [Abstract] [Full Text] [Related]

  • 27. Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia.
    Keeratichamroen S, Cairns JR, Sawangareetrakul P, Liammongkolkul S, Champattanachai V, Srisomsap C, Kamolsilp M, Wasant P, Svasti J.
    Biochem Genet; 2007 Jun 09; 45(5-6):421-30. PubMed ID: 17410422
    [Abstract] [Full Text] [Related]

  • 28. Functional diagnostics in mitochondrial diseases.
    Siciliano G, Volpi L, Piazza S, Ricci G, Mancuso M, Murri L.
    Biosci Rep; 2007 Jun 09; 27(1-3):53-67. PubMed ID: 17492503
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  • 36. Differential diagnosis of mut and cbl methylmalonic aciduria by DNA-mediated gene transfer in primary fibroblasts.
    Wilkemeyer MF, Crane AM, Ledley FD.
    J Clin Invest; 1991 Mar 09; 87(3):915-8. PubMed ID: 1671869
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  • 39. Brain damage by mild metabolic derangements in methylmalonic acidemia.
    Lee NC, Chien YH, Peng SF, Huang AC, Liu TT, Wu AS, Chen LC, Hsu LW, Tseng SC, Hwu WL.
    Pediatr Neurol; 2008 Nov 09; 39(5):325-9. PubMed ID: 18940555
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