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Journal Abstract Search

119 related items for PubMed ID: 2907507

  • 21. Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation.
    Raff ML, Crane AM, Jansen R, Ledley FD, Rosenblatt DS.
    J Clin Invest; 1991 Jan; 87(1):203-7. PubMed ID: 1670635
    [Abstract] [Full Text] [Related]

  • 22. Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia.
    Ledley FD, Jansen R, Nham SU, Fenton WA, Rosenberg LE.
    Proc Natl Acad Sci U S A; 1990 Apr; 87(8):3147-50. PubMed ID: 1970180
    [Abstract] [Full Text] [Related]

  • 23. Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation.
    Janata J, Kogekar N, Fenton WA.
    Hum Mol Genet; 1997 Sep; 6(9):1457-64. PubMed ID: 9285782
    [Abstract] [Full Text] [Related]

  • 24. Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12.
    Mücher G, Becker J, Knapp M, Büttner R, Moser M, Rudnik-Schöneborn S, Somlo S, Germino G, Onuchic L, Avner E, Guay-Woodford L, Zerres K.
    Genomics; 1998 Feb 15; 48(1):40-5. PubMed ID: 9503014
    [Abstract] [Full Text] [Related]

  • 25. Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import.
    Fenton WA, Hack AM, Kraus JP, Rosenberg LE.
    Proc Natl Acad Sci U S A; 1987 Mar 15; 84(5):1421-4. PubMed ID: 2881300
    [Abstract] [Full Text] [Related]

  • 26. 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]

  • 27. Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction.
    Jansen R, Kalousek F, Fenton WA, Rosenberg LE, Ledley FD.
    Genomics; 1989 Feb 28; 4(2):198-205. PubMed ID: 2567699
    [Abstract] [Full Text] [Related]

  • 28. 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]

  • 29. Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.
    Abramowicz MJ, Andrien M, Dupont E, Dorchy H, Parma J, Duprez L, Ledley FD, Courtens W, Vamos E.
    J Clin Invest; 1994 Jul 28; 94(1):418-21. PubMed ID: 7913714
    [Abstract] [Full Text] [Related]

  • 30. 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
    [Abstract] [Full Text] [Related]

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  • 32. Analysis of three suggested psoriasis susceptibility loci in a large Swedish set of families: confirmation of linkage to chromosome 6p (HLA region), and to 17q, but not to 4q.
    Enlund F, Samuelsson L, Enerbäck C, Inerot A, Wahlström J, Yhr M, Torinsson A, Martinsson T, Swanbeck G.
    Hum Hered; 1999 Jan 13; 49(1):2-8. PubMed ID: 9858851
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  • 34. 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 13; 16(2):179. PubMed ID: 10923046
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  • 36. Towards metabolic sink therapy for mut methylmalonic acidaemia: retrovirus-mediated transfer of the human methylmalonyl-CoA mutase cDNA into peripheral blood progenitor cells of a child with mut methylmalonic acidaemia.
    Chang CC, Hsiao KJ, Chen ML, Lin CM.
    J Inherit Metab Dis; 1999 Dec 13; 22(8):951-2. PubMed ID: 10604156
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  • 38. 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 13; 20(5):406. PubMed ID: 12402345
    [Abstract] [Full Text] [Related]

  • 39. Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia.
    Han LS, Huang Z, Han F, Wang Y, Gong ZW, Gu XF.
    World J Pediatr; 2017 Aug 13; 13(4):381-386. PubMed ID: 28101778
    [Abstract] [Full Text] [Related]

  • 40. 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 13; 118(4):264-71. PubMed ID: 27233228
    [Abstract] [Full Text] [Related]

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