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Items: 1 to 20 of 155

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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
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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. Epub 2005 Jan 22.

PMID:
15781192
9.

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
10.

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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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.

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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
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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
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Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations.

Ledley FD, Rosenblatt DS.

Hum Mutat. 1997;9(1):1-6. Review.

PMID:
8990001
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Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.

Merinero B, Pérez B, Pérez-Cerdá C, Rincón A, Desviat LR, Martínez MA, Sala PR, García MJ, Aldamiz-Echevarría L, Campos J, Cornejo V, Del Toro M, Mahfoud A, Martínez-Pardo M, Parini R, Pedrón C, Peña-Quintana L, Pérez M, Pourfarzam M, Ugarte M.

J Inherit Metab Dis. 2008 Feb;31(1):55-66. Epub 2007 Oct 22.

PMID:
17957493
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Immunochemical studies on cultured fibroblasts from patients with inherited methylmalonic acidemia.

Kolhouse JF, Utley C, Fenton WA, Rosenberg LE.

Proc Natl Acad Sci U S A. 1981 Dec;78(12):7737-41.

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