382 related articles for article (PubMed ID: 19199254)
1. [Mutation analysis of the MMACHC gene in a pedigree with methylmalonic aciduria].
Tang H; Hao H; Tang SH; Chen X; Liu F; Cha QB; Li YQ; Li HJ; Sun L; Yu M; Xiao X; Zhou TH
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Feb; 26(1):62-5. PubMed ID: 19199254
[TBL] [Abstract][Full Text] [Related]
2. Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC.
Zong Y; Liu N; Zhao Z; Kong X
BMC Med Genet; 2015 Jul; 16():48. PubMed ID: 26149271
[TBL] [Abstract][Full Text] [Related]
3. Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.
Liu MY; Yang YL; Chang YC; Chiang SH; Lin SP; Han LS; Qi Y; Hsiao KJ; Liu TT
J Hum Genet; 2010 Sep; 55(9):621-6. PubMed ID: 20631720
[TBL] [Abstract][Full Text] [Related]
4. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
Lerner-Ellis JP; Tirone JC; Pawelek PD; Doré C; Atkinson JL; Watkins D; Morel CF; Fujiwara TM; Moras E; Hosack AR; Dunbar GV; Antonicka H; Forgetta V; Dobson CM; Leclerc D; Gravel RA; Shoubridge EA; Coulton JW; Lepage P; Rommens JM; Morgan K; Rosenblatt DS
Nat Genet; 2006 Jan; 38(1):93-100. PubMed ID: 16311595
[TBL] [Abstract][Full Text] [Related]
5. Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#.
Wang J; Li E; Wang L; Wang Z; Yang S; Zhou Q; Chen Q
Int J Clin Exp Pathol; 2015; 8(8):9337-41. PubMed ID: 26464686
[TBL] [Abstract][Full Text] [Related]
6. Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.
Morel CF; Lerner-Ellis JP; Rosenblatt DS
Mol Genet Metab; 2006 Aug; 88(4):315-21. PubMed ID: 16714133
[TBL] [Abstract][Full Text] [Related]
7. Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation.
Kılıç M; Özgül RK; Dursun A; Tokatlı A; Kalkanoğlu-Sivri HS; Anlar B; Fowler B; Coşkun T
Turk J Pediatr; 2013; 55(6):633-6. PubMed ID: 24577983
[TBL] [Abstract][Full Text] [Related]
8. Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
Lerner-Ellis JP; Anastasio N; Liu J; Coelho D; Suormala T; Stucki M; Loewy AD; Gurd S; Grundberg E; Morel CF; Watkins D; Baumgartner MR; Pastinen T; Rosenblatt DS; Fowler B
Hum Mutat; 2009 Jul; 30(7):1072-81. PubMed ID: 19370762
[TBL] [Abstract][Full Text] [Related]
9. Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.
Miousse IR; Watkins D; Coelho D; Rupar T; Crombez EA; Vilain E; Bernstein JA; Cowan T; Lee-Messer C; Enns GM; Fowler B; Rosenblatt DS
J Pediatr; 2009 Apr; 154(4):551-6. PubMed ID: 19058814
[TBL] [Abstract][Full Text] [Related]
10. [Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia].
Wang F; Han LS; Hu YH; Yang YL; Ye J; Qiu WJ; Zhang YF; Gao XL; Wang Y; Gu XF
Zhonghua Er Ke Za Zhi; 2009 Mar; 47(3):189-93. PubMed ID: 19573432
[TBL] [Abstract][Full Text] [Related]
11. Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria.
Froese DS; Zhang J; Healy S; Gravel RA
Mol Genet Metab; 2009 Dec; 98(4):338-43. PubMed ID: 19700356
[TBL] [Abstract][Full Text] [Related]
12. First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type.
Liu Y; Wang Q; Li X; Ding Y; Song J; Yang Y
Brain Dev; 2015 Mar; 37(3):286-91. PubMed ID: 24974159
[TBL] [Abstract][Full Text] [Related]
13. Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type.
Jorge-Finnigan A; Gámez A; Pérez B; Ugarte M; Richard E
Biochim Biophys Acta; 2010 Nov; 1802(11):959-67. PubMed ID: 20696242
[TBL] [Abstract][Full Text] [Related]
14. Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).
Heil SG; Hogeveen M; Kluijtmans LA; van Dijken PJ; van de Berg GB; Blom HJ; Morava E
J Inherit Metab Dis; 2007 Oct; 30(5):811. PubMed ID: 17768669
[TBL] [Abstract][Full Text] [Related]
15. Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria.
Hu S; Mei S; Liu N; Kong X
BMC Med Genet; 2018 Aug; 19(1):154. PubMed ID: 30157807
[TBL] [Abstract][Full Text] [Related]
16. Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.
Nogueira C; Aiello C; Cerone R; Martins E; Caruso U; Moroni I; Rizzo C; Diogo L; Leão E; Kok F; Deodato F; Schiaffino MC; Boenzi S; Danhaive O; Barbot C; Sequeira S; Locatelli M; Santorelli FM; Uziel G; Vilarinho L; Dionisi-Vici C
Mol Genet Metab; 2008 Apr; 93(4):475-80. PubMed ID: 18164228
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.
Wang F; Han L; Yang Y; Gu X; Ye J; Qiu W; Zhang H; Zhang Y; Gao X; Wang Y
J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S435-42. PubMed ID: 20924684
[TBL] [Abstract][Full Text] [Related]
19. Epimutation of MMACHC compound to a genetic mutation in cblC cases.
Zhang X; Chen Q; Song Y; Guo P; Wang Y; Luo S; Zhang Y; Zhou C; Li D; Chen Y; Wei H
Mol Genet Genomic Med; 2021 Jun; 9(6):e1625. PubMed ID: 33982424
[TBL] [Abstract][Full Text] [Related]
20. Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).
Richard E; Jorge-Finnigan A; Garcia-Villoria J; Merinero B; Desviat LR; Gort L; Briones P; Leal F; Pérez-Cerdá C; Ribes A; Ugarte M; Pérez B;
Hum Mutat; 2009 Nov; 30(11):1558-66. PubMed ID: 19760748
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
