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Items: 1 to 20 of 537

1.

A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.

Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M.

Hum Mutat. 2006 Jul;27(7):640-3.

PMID:
16752391
2.

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
3.

Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE).

Gradinger AB, Bélair C, Worgan LC, Li CD, Lavallée J, Roquis D, Watkins D, Rosenblatt DS.

Hum Mutat. 2007 Oct;28(10):1045.

PMID:
17823972
4.

Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up.

Haarmann A, Mayr M, Kölker S, Baumgartner ER, Schnierda J, Hopfer H, Devuyst O, Baumgartner MR.

Mol Genet Metab. 2013 Dec;110(4):472-6. doi: 10.1016/j.ymgme.2013.08.021. Epub 2013 Sep 17.

PMID:
24095221
5.

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
6.

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
7.

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. Epub 2007 Apr 5.

PMID:
17410422
8.

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. Epub 2006 Jan 10.

PMID:
16410054
9.
10.

Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase.

Crane AM, Martin LS, Valle D, Ledley FD.

Hum Genet. 1992 May;89(3):259-64.

PMID:
1351030
11.

Treatment of a methylmalonyl-CoA mutase stopcodon mutation.

Buck NE, Wood LR, Hamilton NJ, Bennett MJ, Peters HL.

Biochem Biophys Res Commun. 2012 Nov 2;427(4):753-7. doi: 10.1016/j.bbrc.2012.09.133. Epub 2012 Oct 4.

PMID:
23041189
12.

Methylmalonic acidaemia due to mutase apoenzyme defect: responsive to vitamin B12 in intact fibroblasts but not in vivo.

Baumgartner R, Giardini O, Cantani A, Sabetta G, Castro M.

J Inherit Metab Dis. 1982;5(3):137-41.

PMID:
6133033
13.

First trimester diagnosis of methylmalonic aciduria.

Fowler B, Giles L, Sardharwalla IB, Donnai P, Clayton JK.

Prenat Diagn. 1988 Mar;8(3):207-13.

PMID:
2897685
14.

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
15.

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
16.

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
17.

[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. Spanish.

PMID:
17432548
18.

A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality.

Peters H, Nefedov M, Sarsero J, Pitt J, Fowler KJ, Gazeas S, Kahler SG, Ioannou PA.

J Biol Chem. 2003 Dec 26;278(52):52909-13. Epub 2003 Oct 10.

19.

Development of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locus.

Buck NE, Dashnow H, Pitt JJ, Wood LR, Peters HL.

PLoS One. 2012;7(9):e44974. Epub 2012 Sep 14.

20.

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LA, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, van Rooij A, Vermunt-de Koning D, Morava E, Wevers RA.

Brain. 2007 Mar;130(Pt 3):862-74. Epub 2007 Feb 14.

PMID:
17301081

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