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Items: 1 to 20 of 355

1.

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
2.

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
3.
4.

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
5.

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
6.

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
7.

Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.

Worgan LC, Niles K, Tirone JC, Hofmann A, Verner A, Sammak A, Kucic T, Lepage P, Rosenblatt DS.

Hum Mutat. 2006 Jan;27(1):31-43.

PMID:
16281286
8.

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
9.

Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia.

Sakamoto O, Ohura T, Matsubara Y, Takayanagi M, Tsuchiya S.

J Hum Genet. 2007;52(1):48-55. Epub 2006 Oct 31.

PMID:
17075691
10.

Clinical characteristics and gene mutation analysis of methylmalonic aciduria.

Yi Q, Lv J, Tian F, Wei H, Ning Q, Luo X.

J Huazhong Univ Sci Technolog Med Sci. 2011 Jun;31(3):384-9. doi: 10.1007/s11596-011-0386-3. Epub 2011 Jun 14.

PMID:
21671183
11.

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
12.

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
13.

The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.

Pérez B, Angaroni C, Sánchez-Alcudia R, Merinero B, Pérez-Cerdá C, Specola N, Rodríguez-Pombo P, Wajner M, de Kremer RD, Cornejo V, Desviat LR, Ugarte M.

J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S307-14. doi: 10.1007/s10545-010-9116-4. Epub 2010 Jun 15.

PMID:
20549364
14.

Novel mutations in a Thai patient with methylmalonic acidemia.

Champattanachai V, Ketudat Cairns JR, Shotelersuk V, Keeratichamroen S, Sawangareetrakul P, Srisomsap C, Kaewpaluek V, Svasti J.

Mol Genet Metab. 2003 Aug;79(4):300-2.

PMID:
12948746
15.

Mutation analysis of the MCM gene in Israeli patients with mut(0) disease.

Berger I, Shaag A, Anikster Y, Baumgartner ER, Bar-Meir M, Joseph A, Elpeleg ON.

Mol Genet Metab. 2001 May;73(1):107-10.

PMID:
11350191
16.

[Analysis of the MUT gene mutations in patients with methylmalonic acidemia].

Wang F, Han L, Ye J, Qiu W, Zhang Y, Gao X, Wang Y, Yang Y, Gu X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Oct;26(5):485-9. doi: 10.3760/cma.j.issn.1003-9406.2009.05.001. Chinese.

PMID:
19806564
17.

[Mutation analysis of the methylmalonyl-CoA mutase gene in ten Mexican patients with methylmalonic acidemia].

Méndez ST, Vela-Amieva M, Velázquez-Arellano A, Ibarra I, Flores ME.

Rev Invest Clin. 2012 May-Jun;64(3):255-61. Spanish.

PMID:
23045948
18.

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
19.

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
20.

Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).

Hörster F, Baumgartner MR, Viardot C, Suormala T, Burgard P, Fowler B, Hoffmann GF, Garbade SF, Kölker S, Baumgartner ER.

Pediatr Res. 2007 Aug;62(2):225-30.

PMID:
17597648

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