311 related articles for article (PubMed ID: 31279840)
1. Mutation spectrum of MMACHC in Chinese pediatric patients with cobalamin C disease: A case series and literature review.
Wang C; Li D; Cai F; Zhang X; Xu X; Liu X; Zhang C; Wang D; Liu X; Lin S; Zhang Y; Shu J
Eur J Med Genet; 2019 Oct; 62(10):103713. PubMed ID: 31279840
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Rapid screening of MMACHC gene mutations by high-resolution melting curve analysis.
Wang C; Liu Y; Cai F; Zhang X; Xu X; Li Y; Zou Q; Zheng J; Zhang Y; Guo W; Cai C; Shu J
Mol Genet Genomic Med; 2020 Jun; 8(6):e1221. PubMed ID: 32198913
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases.
He R; Mo R; Shen M; Kang L; Song J; Liu Y; Chen Z; Zhang H; Yao H; Liu Y; Zhang Y; Dong H; Jin Y; Li M; Qin J; Zheng H; Chen Y; Li D; Wei H; Li X; Zhang H; Huang M; Zhang C; Jiang Y; Liang D; Tian Y; Yang Y
Orphanet J Rare Dis; 2020 Aug; 15(1):200. PubMed ID: 32746869
[TBL] [Abstract][Full Text] [Related]
7. [Relationship of genotypes with clinical phenotypes and outcomes in children with cobalamin C type combined methylmalonic aciduria and homocystinuria].
Yu YF; Li F; Ma HW
Zhongguo Dang Dai Er Ke Za Zhi; 2015 Aug; 17(8):769-74. PubMed ID: 26287336
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China.
Han B; Cao Z; Tian L; Zou H; Yang L; Zhu W; Liu Y
Brain Dev; 2016 May; 38(5):491-7. PubMed ID: 26563984
[TBL] [Abstract][Full Text] [Related]
10. The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients.
Demaret T; Bédard K; Soucy JF; Watkins D; Allard P; Levtova A; O'Brien A; Brunel-Guitton C; Rosenblatt DS; Mitchell GA
Mol Genet Metab; 2024 May; 142(1):108345. PubMed ID: 38387306
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China.
Wang X; Sun W; Yang Y; Jia J; Li C
J Neurol Sci; 2012 Jul; 318(1-2):155-9. PubMed ID: 22560872
[TBL] [Abstract][Full Text] [Related]
13. Combined methylmalonic aciduria and homocystinuria cblC type of a Taiwanese infant with c.609G>A and C.567dupT mutations in the MMACHC gene.
Chang JT; Chen YY; Liu TT; Liu MY; Chiu PC
Pediatr Neonatol; 2011 Aug; 52(4):223-6. PubMed ID: 21835369
[TBL] [Abstract][Full Text] [Related]
14. Investigation on a MMACHC mutant from cblC disease: The c.394C>T variant.
Passantino R; Mangione MR; Ortore MG; Costa MA; Provenzano A; Amenitsch H; Sabbatella R; Alfano C; Martorana V; Vilasi S
Biochim Biophys Acta Proteins Proteom; 2022 Jun; 1870(6):140793. PubMed ID: 35618206
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. A high frequency and geographical distribution of MMACHC R132* mutation in children with cobalamin C defect.
Kaur R; Attri SV; Saini AG; Sankhyan N
Amino Acids; 2021 Feb; 53(2):253-264. PubMed ID: 33515116
[TBL] [Abstract][Full Text] [Related]
17. Clinical features and outcomes of patients with cblC type methylmalonic acidemia carrying gene c.609G>A mutation.
Yu Y; Ling S; Shuai R; Qiu W; Zhang H; Liang L; Ji W; Liu Y; Gu X; Han L
Zhejiang Da Xue Xue Bao Yi Xue Ban; 2021 Aug; 50(4):436-443. PubMed ID: 34704411
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. [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]
[Next] [New Search]
