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Journal Abstract Search

688 related items for PubMed ID: 17301081

  • 21. New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.
    Valayannopoulos V, Haudry C, Serre V, Barth M, Boddaert N, Arnoux JB, Cormier-Daire V, Rio M, Rabier D, Vassault A, Munnich A, Bonnefont JP, de Lonlay P, Rötig A, Lebre AS.
    Mitochondrion; 2010 Jun; 10(4):335-41. PubMed ID: 20197121
    [Abstract] [Full Text] [Related]

  • 22. 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; 90(3):284-90. PubMed ID: 17113806
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  • 24. Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.
    Martínez MA, Rincón A, Desviat LR, Merinero B, Ugarte M, Pérez B.
    Mol Genet Metab; 2005 Apr; 84(4):317-25. PubMed ID: 15781192
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  • 25. [Phenotype heterogeneity associated with mitochondrial DNA A3243G mutation].
    Zhang Y, Wang ZX, Niu SL, Xu YF, Pei P, Yuan Y, Yang YL, Qi Y.
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 2005 Feb; 27(1):77-80. PubMed ID: 15782498
    [Abstract] [Full Text] [Related]

  • 26. Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.
    Rivera H, Merinero B, Martinez-Pardo M, Arroyo I, Ruiz-Sala P, Bornstein B, Serra-Suhe C, Gallardo E, Marti R, Moran MJ, Ugalde C, Perez-Jurado LA, Andreu AL, Garesse R, Ugarte M, Arenas J, Martin MA.
    Mitochondrion; 2010 Jun; 10(4):362-8. PubMed ID: 20227526
    [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; 45(5-6):421-30. PubMed ID: 17410422
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  • 29. Leigh syndrome: clinical features and biochemical and DNA abnormalities.
    Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR.
    Ann Neurol; 1996 Mar; 39(3):343-51. PubMed ID: 8602753
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  • 30. Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.
    Lerner-Ellis JP, Gradinger AB, Watkins D, Tirone JC, Villeneuve A, Dobson CM, Montpetit A, Lepage P, Gravel RA, Rosenblatt DS.
    Mol Genet Metab; 2006 Mar; 87(3):219-25. PubMed ID: 16410054
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  • 31. Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.
    Blázquez A, Gil-Borlado MC, Morán M, Verdú A, Cazorla-Calleja MR, Martín MA, Arenas J, Ugalde C.
    Neuromuscul Disord; 2009 Feb; 19(2):143-6. PubMed ID: 19162478
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  • 32. Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder.
    Randolph LM, Jackson HA, Wang J, Shimada H, Sanchez-Lara PA, Wong DA, Wong LJ, Boles RG.
    Mol Genet Metab; 2011 Feb; 102(2):149-52. PubMed ID: 21093335
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  • 33. Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.
    Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N.
    J Med Genet; 2011 Sep; 48(9):602-5. PubMed ID: 21785126
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  • 34. Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect.
    Herzer M, Koch J, Prokisch H, Rodenburg R, Rauscher C, Radauer W, Forstner R, Pilz P, Rolinski B, Freisinger P, Mayr JA, Sperl W.
    Neuropediatrics; 2010 Feb; 41(1):30-4. PubMed ID: 20571988
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  • 35. Leigh-like syndrome with the T8993G mutation in the mitochondrial ATPase 6 gene: long-term follow-up discloses a slowly progressive course.
    Sobreira C, Marques W, Pontes Neto OM, Santos AC, Pina Neto JM, Barreira AA.
    J Neurol Sci; 2009 Mar 15; 278(1-2):132-4. PubMed ID: 19144360
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  • 36. [Leigh syndrome caused by the mitochondrial DNA G14459A mutation in a Mexican family].
    Gutiérrez A, Saldaña-Martínez A, García-Ramírez R, Rayo-Mares D, Carreras M, López-Pérez MJ, Ruiz-Pesini E, Montoya J, Montiel-Sosa JF.
    Rev Neurol; 2009 Mar 15; 49(5):248-50. PubMed ID: 19714555
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  • 37. Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria.
    Cavicchi C, Donati MA, Funghini S, la Marca G, Malvagia S, Ciani F, Poggi GM, Pasquini E, Zammarchi E, Morrone A.
    Clin Genet; 2006 Jan 15; 69(1):72-6. PubMed ID: 16451139
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  • 38. Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications.
    Makino M, Horai S, Goto Y, Nonaka I.
    J Hum Genet; 2000 Jan 15; 45(2):69-75. PubMed ID: 10721666
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  • 39. Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNA.
    Pancrudo J, Shanske S, Bonilla E, Daras M, Akman HO, Krishna S, Malkin E, DiMauro S.
    J Child Neurol; 2007 Jul 15; 22(7):858-62. PubMed ID: 17715279
    [Abstract] [Full Text] [Related]

  • 40. A novel mutation in the mitochondrial tRNA for tryptophan causing a late-onset mitochondrial encephalomyopathy.
    Sanaker PS, Nakkestad HL, Downham E, Bindoff LA.
    Acta Neurol Scand; 2010 Feb 15; 121(2):109-13. PubMed ID: 19744136
    [Abstract] [Full Text] [Related]

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