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Items: 1 to 20 of 116

1.

Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria.

Qureshi AA, Crane AM, Matiaszuk NV, Rezvani I, Ledley FD, Rosenblatt DS.

J Clin Invest. 1994 Apr;93(4):1812-9.

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Studies on cultured fibroblasts in a case of methylmalonic aciduria.

Davidson JS, Lloyd A, Christianson A, Harley EH, Berger GM.

S Afr Med J. 1984 Feb 18;65(7):257-60.

PMID:
6141644
8.

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;11(4):270-4.

PMID:
9554742
9.

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;88(4):327-33. Epub 2006 May 11.

PMID:
16697227
10.

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;44(1):35-9.

PMID:
9929975
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[Molecular diagnosis of a kindred with novel mutation of methylmalonyl-CoA mutase gene using non-RI SSCP].

Toyo-Oka Y, Wada C, Ohnuki Y, Takada F, Ohtani H.

Rinsho Byori. 1995 Jun;43(6):625-9. Japanese.

PMID:
7602808
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;16(2):179.

PMID:
10923046
14.

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.

PMID:
12402345
15.

Methylmalonyl-CoA mutase induction by cerebral ischemia and neurotoxicity of the mitochondrial toxin methylmalonic acid.

Narasimhan P, Sklar R, Murrell M, Swanson RA, Sharp FR.

J Neurosci. 1996 Nov 15;16(22):7336-46.

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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. Epub 2006 Nov 20.

PMID:
17113806
19.

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.

20.

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.

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