250 related articles for article (PubMed ID: 26287336)
1. [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]
2. 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]
3. 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]
4. 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]
5. Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type.
Weisfeld-Adams JD; Bender HA; Miley-Åkerstedt A; Frempong T; Schrager NL; Patel K; Naidich TP; Stein V; Spat J; Towns S; Wasserstein MP; Peter I; Frank Y; Diaz GA
Mol Genet Metab; 2013 Nov; 110(3):241-7. PubMed ID: 23954310
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy.
Collison FT; Xie YA; Gambin T; Jhangiani S; Muzny D; Gibbs R; Lupski JR; Fishman GA; Allikmets R
Ophthalmic Genet; 2015; 36(3):270-5. PubMed ID: 25687216
[TBL] [Abstract][Full Text] [Related]
10. 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]
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. 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]
13. 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]
14. 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]
15. 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]
16. Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia.
Ku CA; Ng JK; Karr DJ; Reznick L; Harding CO; Weleber RG; Pennesi ME
Ophthalmic Genet; 2016 Dec; 37(4):404-414. PubMed ID: 26979128
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. [Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment].
Huang Z; Han LS; Ye J; Qiu WJ; Zhang HW; Gao XL; Wang Y; Ji WJ; Li XY; Gu XF
Zhonghua Er Ke Za Zhi; 2013 Mar; 51(3):194-8. PubMed ID: 23751581
[TBL] [Abstract][Full Text] [Related]
19. Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency.
Matos IV; Castejón E; Meavilla S; O'Callaghan M; Garcia-Villoria J; López-Sala A; Ribes A; Artuch R; Garcia-Cazorla A
Mol Genet Metab; 2013 Aug; 109(4):360-5. PubMed ID: 23746552
[TBL] [Abstract][Full Text] [Related]
20. Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment.
Chen Z; Dong H; Liu Y; He R; Song J; Jin Y; Li M; Liu Y; Liu X; Yan H; Qi J; Wang F; Xiao H; Zheng H; Kang L; Li D; Zhang Y; Yang Y
Orphanet J Rare Dis; 2022 Sep; 17(1):330. PubMed ID: 36056359
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
