BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

133 related articles for article (PubMed ID: 38387306)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Treatment of cobalamin C (cblC) deficiency during pregnancy.
    Brunel-Guitton C; Costa T; Mitchell GA; Lambert M
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S409-12. PubMed ID: 20830523
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 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. 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]  

  • 11. 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]  

  • 12. The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans.
    Hannibal L; DiBello PM; Yu M; Miller A; Wang S; Willard B; Rosenblatt DS; Jacobsen DW
    Mol Genet Metab; 2011 Jul; 103(3):226-39. PubMed ID: 21497120
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Intracellular processing of vitamin B
    Hannibal L; Jacobsen DW
    Vitam Horm; 2022; 119():275-298. PubMed ID: 35337623
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. Would, early, versus late hydroxocobalamin dose intensification treatment, prevent cognitive decline, macular degeneration and ocular disease, in 5 patients with early-onset cblC deficiency?
    Scalais E; Geron C; Pierron C; Cardillo S; Schlesser V; Mataigne F; Borde P; Regal L
    Mol Genet Metab; 2023 Nov; 140(3):107681. PubMed ID: 37604084
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Isolated subacute combined degeneration in late-onset cobalamin C deficiency in children: Two case reports and literature review.
    Cui J; Wang Y; Zhang H; Cui X; Wang L; Zheng H
    Medicine (Baltimore); 2019 Sep; 98(39):e17334. PubMed ID: 31574870
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.