310 related articles for article (PubMed ID: 24974159)
21. 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]
22. 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]
23. 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]
24. 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]
25. Late-onset cobalamin C deficiency Chinese sibling patients with neuropsychiatric presentations.
Wang SJ; Yan CZ; Liu YM; Zhao YY
Metab Brain Dis; 2018 Jun; 33(3):829-835. PubMed ID: 29374341
[TBL] [Abstract][Full Text] [Related]
26. Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency.
Cornec-Le Gall E; Delmas Y; De Parscau L; Doucet L; Ogier H; Benoist JF; Fremeaux-Bacchi V; Le Meur Y
Am J Kidney Dis; 2014 Jan; 63(1):119-23. PubMed ID: 24210589
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder.
Froese DS; Healy S; McDonald M; Kochan G; Oppermann U; Niesen FH; Gravel RA
Mol Genet Metab; 2010 May; 100(1):29-36. PubMed ID: 20219402
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. [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]
31. [A case of late-onset cobalamin C disease (methylmalonic aciduria and homocystinuria, cobalamin C type)].
Yamamoto M; Yasui K; Watanabe Y; Kowa H; Yamaguchi S; Nakashima K
Rinsho Shinkeigaku; 2015; 55(1):23-8. PubMed ID: 25672861
[TBL] [Abstract][Full Text] [Related]
32. Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type.
Gizicki R; Robert MC; Gómez-López L; Orquin J; Decarie JC; Mitchell GA; Roy MS; Ospina LH
Ophthalmology; 2014 Jan; 121(1):381-386. PubMed ID: 24126030
[TBL] [Abstract][Full Text] [Related]
33. [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]
34. Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.
Huemer M; Scholl-Bürgi S; Hadaya K; Kern I; Beer R; Seppi K; Fowler B; Baumgartner MR; Karall D
Orphanet J Rare Dis; 2014 Nov; 9():161. PubMed ID: 25398587
[TBL] [Abstract][Full Text] [Related]
35. Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria.
Grandone E; Martinelli P; Villani M; Vecchione G; Fischetti L; Leccese A; Santacroce R; Corso G; Margaglione M
BMC Pregnancy Childbirth; 2019 Aug; 19(1):318. PubMed ID: 31470807
[TBL] [Abstract][Full Text] [Related]
36. Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists.
Kalantari S; Brezzi B; Bracciamà V; Barreca A; Nozza P; Vaisitti T; Amoroso A; Deaglio S; Manganaro M; Porta F; Spada M
Orphanet J Rare Dis; 2022 Feb; 17(1):33. PubMed ID: 35109910
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. [Clinical studies on fifty-seven Chinese patients with combined methylmalonic aciduria and homocysteinemia].
Zhang Y; Song JQ; Liu P; Yan R; Dong JH; Yang YL; Wang LF; Jiang YW; Zhang YH; Qin J; Wu XR
Zhonghua Er Ke Za Zhi; 2007 Jul; 45(7):513-7. PubMed ID: 17953808
[TBL] [Abstract][Full Text] [Related]
39. Case report: An asymptomatic mother with an inborn error of cobalamin metabolism (cblC) detected through high homocysteine levels during prenatal diagnosis.
Liu YP; He RX; Chen ZH; Kang LL; Song JQ; Liu Y; Shi CY; Chen JY; Dong H; Zhang Y; Li MQ; Jin Y; Qin J; Yang YL
Front Nutr; 2023; 10():1124387. PubMed ID: 37252234
[TBL] [Abstract][Full Text] [Related]
40. Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.
Wu SN; E HS; Yu Y; Ling SY; Liang LL; Qiu WJ; Zhang HW; Shuai RX; Wei HY; Yang CJ; Xu P; Chen XG; Zou H; Feng JZ; Niu TT; Hu HL; Zhang KC; Lu DY; Gong ZW; Zhan X; Ji WJ; Gu XF; Chen YX; Han LS
World J Pediatr; 2023 Dec; ():. PubMed ID: 38070096
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
