150 related articles for article (PubMed ID: 7602808)
1. [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. PubMed ID: 7602808
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. [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]
7. 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]
8. [Isolated methylmalonyl-CoA mutase deficiency].
Yoshino M
Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):269-72. PubMed ID: 9590044
[No Abstract] [Full Text] [Related]
9. Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia.
Ogasawara M; Matsubara Y; Mikami H; Narisawa K
Hum Mol Genet; 1994 Jun; 3(6):867-72. PubMed ID: 7951229
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.
Dobson CM; Wai T; Leclerc D; Wilson A; Wu X; Doré C; Hudson T; Rosenblatt DS; Gravel RA
Proc Natl Acad Sci U S A; 2002 Nov; 99(24):15554-9. PubMed ID: 12438653
[TBL] [Abstract][Full Text] [Related]
13. Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency.
Keyfi F; Sankian M; Moghaddassian M; Rolfs A; Varasteh AR
Gene; 2016 Jan; 576(1 Pt 2):208-13. PubMed ID: 26449400
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 12948746
[TBL] [Abstract][Full Text] [Related]
15. [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]
16. 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]
17. Novel mutation of methylmalonyl-CoA mutase gene causing the mut0 form of methylmalonic acidemia in a Japanese girl.
Oyama C; Takahashi T; Matsumori M; Shoji Y; Tajima G; Sakura N; Hasegawa Y; Yamaguchi S; Kakinuma H; Takada G
Pediatr Int; 2007 Apr; 49(2):232-4. PubMed ID: 17445044
[No Abstract] [Full Text] [Related]
18. Perspectives on methylmalonic acidemia resulting from molecular cloning of methylmalonyl CoA mutase.
Ledley FD
Bioessays; 1990 Jul; 12(7):335-40. PubMed ID: 1975493
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. [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]
[Next] [New Search]
