BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

324 related articles for article (PubMed ID: 26464686)

  • 1. 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]  

  • 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. 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]  

  • 4. Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.
    Carrillo-Carrasco N; Chandler RJ; Venditti CP
    J Inherit Metab Dis; 2012 Jan; 35(1):91-102. PubMed ID: 21748409
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. [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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 17.