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Journal Abstract Search

198 related items for PubMed ID: 16156030

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2. [Diagnosis and treatment of methylmalonic aciduria: a case report].
    Mahfoud A, Domínguez CL, Pérez A, Rizzo C, Merinero B, Pérez B.
    Invest Clin; 2007 Mar; 48(1):99-105. PubMed ID: 17432548
    [Abstract] [Full Text] [Related]

  • 3. Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations.
    Peters HL, Nefedov M, Lee LW, Abdenur JE, Chamoles NA, Kahler SG, Ioannou PA.
    Hum Mutat; 2002 Nov; 20(5):406. PubMed ID: 12402345
    [Abstract] [Full Text] [Related]

  • 4. Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.
    Acquaviva C, Benoist JF, Pereira S, Callebaut I, Koskas T, Porquet D, Elion J.
    Hum Mutat; 2005 Feb; 25(2):167-76. PubMed ID: 15643616
    [Abstract] [Full Text] [Related]

  • 5. 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 Feb; 11(4):270-4. PubMed ID: 9554742
    [Abstract] [Full Text] [Related]

  • 6. Impaired energy metabolism and abnormal muscle histology in mut- methylmalonic aciduria.
    Østergaard E, Wibrand F, Ørngreen MC, Vissing J, Horn N.
    Neurology; 2005 Sep 27; 65(6):931-3. PubMed ID: 16186538
    [Abstract] [Full Text] [Related]

  • 7. A common mutation among blacks with mut- methylmalonic aciduria.
    Adjalla CE, Hosack AR, Matiaszuk NV, Rosenblatt DS.
    Hum Mutat; 1998 Sep 27; Suppl 1():S248-50. PubMed ID: 9452100
    [No Abstract] [Full Text] [Related]

  • 8. Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations.
    Ledley FD, Rosenblatt DS.
    Hum Mutat; 1997 Sep 27; 9(1):1-6. PubMed ID: 8990001
    [Abstract] [Full Text] [Related]

  • 9. 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 27; 73(1):107-10. PubMed ID: 11350191
    [Abstract] [Full Text] [Related]

  • 10.
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  • 11. 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 27; 90(3):284-90. PubMed ID: 17113806
    [Abstract] [Full Text] [Related]

  • 12. 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 27; 88(4):327-33. PubMed ID: 16697227
    [Abstract] [Full Text] [Related]

  • 13. mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation.
    Fuchshuber A, Mucha B, Baumgartner ER, Vollmer M, Hildebrandt F.
    Hum Mutat; 2000 Aug 27; 16(2):179. PubMed ID: 10923046
    [Abstract] [Full Text] [Related]

  • 14. Molecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: deductions from the structure of methionine synthase.
    Drennan CL, Matthews RG, Rosenblatt DS, Ledley FD, Fenton WA, Ludwig ML.
    Proc Natl Acad Sci U S A; 1996 May 28; 93(11):5550-5. PubMed ID: 8643613
    [Abstract] [Full Text] [Related]

  • 15.
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  • 16. 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 May 28; 44(1):35-9. PubMed ID: 9929975
    [Abstract] [Full Text] [Related]

  • 17. 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 28; 87(3):915-8. PubMed ID: 1671869
    [Abstract] [Full Text] [Related]

  • 18. [Isolated methylmalonyl-CoA mutase deficiency].
    Yoshino M.
    Ryoikibetsu Shokogun Shirizu; 1998 Mar 28; (18 Pt 1):269-72. PubMed ID: 9590044
    [No Abstract] [Full Text] [Related]

  • 19. [Methylmalonic acidemia].
    Ohura T.
    Tanpakushitsu Kakusan Koso; 1988 Apr 28; 33(5):579-84. PubMed ID: 2908397
    [No Abstract] [Full Text] [Related]

  • 20. 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 28; 45(5-6):421-30. PubMed ID: 17410422
    [Abstract] [Full Text] [Related]

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