These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

194 related articles for article (PubMed ID: 29302025)

  • 41. 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]  

  • 42. Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder.
    Sharma AP; Greenberg CR; Prasad AN; Prasad C
    Pediatr Nephrol; 2007 Dec; 22(12):2097-103. PubMed ID: 17874135
    [TBL] [Abstract][Full Text] [Related]  

  • 43. HIF1 and DROSHA are involved in MMACHC repression in hypoxia.
    Kiessling E; Peters F; Ebner LJA; Merolla L; Samardzija M; Baumgartner MR; Grimm C; Froese DS
    Biochim Biophys Acta Gen Subj; 2022 Sep; 1866(9):130175. PubMed ID: 35636712
    [TBL] [Abstract][Full Text] [Related]  

  • 44. 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]  

  • 45. Clinical presentation and outcome in a series of 88 patients with the cblC defect.
    Fischer S; Huemer M; Baumgartner M; Deodato F; Ballhausen D; Boneh A; Burlina AB; Cerone R; Garcia P; Gökçay G; Grünewald S; Häberle J; Jaeken J; Ketteridge D; Lindner M; Mandel H; Martinelli D; Martins EG; Schwab KO; Gruenert SC; Schwahn BC; Sztriha L; Tomaske M; Trefz F; Vilarinho L; Rosenblatt DS; Fowler B; Dionisi-Vici C
    J Inherit Metab Dis; 2014 Sep; 37(5):831-40. PubMed ID: 24599607
    [TBL] [Abstract][Full Text] [Related]  

  • 46. A regionally adapted HRM-based technique to screen MMACHC carriers for methylmalonic acidemia with homocystinuria in Shandong Province, China.
    Yang H; Li M; Zou L; Zou H; Zhao Y; Cui Y; Han J
    Intractable Rare Dis Res; 2023 Feb; 12(1):29-34. PubMed ID: 36873673
    [TBL] [Abstract][Full Text] [Related]  

  • 47. 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]  

  • 48. Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism.
    Miousse IR; Watkins D; Rosenblatt DS
    Mol Genet Metab; 2011 Apr; 102(4):505-7. PubMed ID: 21303734
    [TBL] [Abstract][Full Text] [Related]  

  • 49. [Rapid screening of a hotspot variant c.609G>A in MMACHC gene by using PCR-high-resolution melting curve analysis].
    Lin S; Wang C; Zhang X; Xu X; Zou Q; Cai C; Zhang Y; Shu J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Jul; 37(7):759-763. PubMed ID: 32619259
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Late-onset cobalamin-C disorder: a challenging diagnosis.
    Ben-Omran TI; Wong H; Blaser S; Feigenbaum A
    Am J Med Genet A; 2007 May; 143A(9):979-84. PubMed ID: 17431913
    [TBL] [Abstract][Full Text] [Related]  

  • 51. "Monoallelic germline methylation and sequence variant in the promoter of the RB1 gene: a possible constitutive epimutation in hereditary retinoblastoma".
    Quiñonez-Silva G; Dávalos-Salas M; Recillas-Targa F; Ostrosky-Wegman P; Aranda DA; Benítez-Bribiesca L
    Clin Epigenetics; 2016; 8():1. PubMed ID: 26753011
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism.
    Pupavac M; Tian X; Chu J; Wang G; Feng Y; Chen S; Fenter R; Zhang VW; Wang J; Watkins D; Wong LJ; Rosenblatt DS
    Mol Genet Metab; 2016 Mar; 117(3):363-8. PubMed ID: 26827111
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency.
    Koenig JC; Rutsch F; Bockmeyer C; Baumgartner M; Beck BB; Kranz B; Konrad M
    Pediatr Nephrol; 2015 Jul; 30(7):1203-6. PubMed ID: 25894566
    [TBL] [Abstract][Full Text] [Related]  

  • 54. 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]  

  • 55. A human vitamin B12 trafficking protein uses glutathione transferase activity for processing alkylcobalamins.
    Kim J; Hannibal L; Gherasim C; Jacobsen DW; Banerjee R
    J Biol Chem; 2009 Nov; 284(48):33418-24. PubMed ID: 19801555
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Report - Report on the heterozygosis mutations of c.567dupT, p.(Ile190Tyrfs*13) of MMACHC gene in 1 Child patient with methylmalonic academia.
    Liu K; Chen G; Ma Y; Xian Y; Zhang Z
    Pak J Pharm Sci; 2016 May; 29(3 Suppl):1109-11. PubMed ID: 27383490
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Transcobalamin in cultured fibroblasts from patients with inborn errors of vitamin B12 metabolism.
    Yamani L; Gibbs BF; Gilfix BM; Watkins D; Hosack A; Rosenblatt DS
    Mol Genet Metab; 2008; 95(1-2):104-6. PubMed ID: 18606554
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.
    Quintana AM; Yu HC; Brebner A; Pupavac M; Geiger EA; Watson A; Castro VL; Cheung W; Chen SH; Watkins D; Pastinen T; Skovby F; Appel B; Rosenblatt DS; Shaikh TH
    Hum Mol Genet; 2017 Aug; 26(15):2838-2849. PubMed ID: 28449119
    [TBL] [Abstract][Full Text] [Related]  

  • 59. [Combined methylmalonic acidemia and homocystinuria; a case report].
    Jiménez Varo I; Bueno Delgado M; Dios Fuentes E; Delgado Pecellin C; González Meneses A; Soto Moreno A; Venegas Moreno E
    Nutr Hosp; 2015 Apr; 31(4):1885-8. PubMed ID: 25795986
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Methionine dependence in tumor cells: The potential role of cobalamin and MMACHC.
    Sorin M; Watkins D; Gilfix BM; Rosenblatt DS
    Mol Genet Metab; 2021 Mar; 132(3):155-161. PubMed ID: 33487542
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.