558 related articles for article (PubMed ID: 17113806)
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. PubMed ID: 17113806
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 15781192
[TBL] [Abstract][Full Text] [Related]
3. Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.
Acquaviva C; Benoist JF; Pereira S; Callebaut I; Koskas T; Porquet D; Elion J
Hum Mutat; 2005 Feb; 25(2):167-76. PubMed ID: 15643616
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 12402345
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 9554742
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 17410422
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 16281286
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 17823972
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 10923046
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 11350191
[TBL] [Abstract][Full Text] [Related]
11. [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. PubMed ID: 19806564
[TBL] [Abstract][Full Text] [Related]
12. [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; 64(3):255-61. PubMed ID: 23045948
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 9929975
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 16752391
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 17597648
[TBL] [Abstract][Full Text] [Related]
16. 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
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 17432548
[TBL] [Abstract][Full Text] [Related]
18. Varying neurological phenotypes among muto and mut- patients with methylmalonylCoA mutase deficiency.
Shevell MI; Matiaszuk N; Ledley FD; Rosenblatt DS
Am J Med Genet; 1993 Mar; 45(5):619-24. PubMed ID: 7681251
[TBL] [Abstract][Full Text] [Related]
19. Inherited methylmalonyl CoA mutase apoenzyme deficiency in human fibroblasts: evidence for allelic heterogeneity, genetic compounds, and codominant expression.
Willard HF; Rosenberg LE
J Clin Invest; 1980 Mar; 65(3):690-8. PubMed ID: 6101601
[TBL] [Abstract][Full Text] [Related]
20. Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis.
Richard E; Monteoliva L; Juarez S; Pérez B; Desviat LR; Ugarte M; Albar JP
J Proteome Res; 2006 Jul; 5(7):1602-10. PubMed ID: 16823967
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
