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 *

131 related articles for article (PubMed ID: 33473346)

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

  • 23. 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]  

  • 24. 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]  

  • 25. 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]  

  • 26. 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]  

  • 27. [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]  

  • 28. [Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria].
    Liu YP; Ma YY; Wu TF; Wang Q; Li XY; Ding Y; Song JQ; Huang Y; Yang YL
    Zhonghua Er Ke Za Zhi; 2012 Jun; 50(6):410-4. PubMed ID: 22931934
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Multiple sclerosis and intracellular cobalamin defect (
    Pollini L; Tolve M; Nardecchia F; Galosi S; Carducci C; di Carlo E; Carducci C; Leuzzi V
    Mol Genet Metab Rep; 2020 Mar; 22():100560. PubMed ID: 32099815
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. 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]  

  • 32. 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]  

  • 33. 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]  

  • 34. Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant.
    Paz D; Pinales BE; Castellanos BS; Perez I; Gil CB; Madrigal LJ; Reyes-Nava NG; Castro VL; Sloan JL; Quintana AM
    Differentiation; 2023; 131():74-81. PubMed ID: 37167860
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type.
    Gerth C; Morel CF; Feigenbaum A; Levin AV
    J AAPOS; 2008 Dec; 12(6):591-6. PubMed ID: 18848477
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Clinical, Biochemical and Molecular Features of a Cohort of 8 Patients with Inherited Disorders of Vitamin B12 Metabolism in a Metabolic Reference Center.
    Padeira G; Jacinto S; Ribeirinho A; Ferreira AC
    Endocr Metab Immune Disord Drug Targets; 2023 Oct; ():. PubMed ID: 37861032
    [TBL] [Abstract][Full Text] [Related]  

  • 38. High-dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency.
    Higashimoto T; Kim AY; Ogawa JT; Sloan JL; Almuqbil MA; Carlson JM; Manoli I; Venditti CP; Gunay-Aygun M; Wang T
    JIMD Rep; 2020 Jan; 51(1):17-24. PubMed ID: 32071835
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type.
    Chen T; Liang L; Zhang H; Ye J; Qiu W; Xiao B; Zhu H; Wang L; Xu F; Gong Z; Gu X; Han L
    Orphanet J Rare Dis; 2021 Mar; 16(1):125. PubMed ID: 33691766
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Adult-onset combined methylmalonic acidemia and hyperhomocysteinemia, cblC type with aortic dissection and acute kidney injury: a case report.
    Hao Q; Jiang B; Zhao Y; Hu Z
    BMC Nephrol; 2024 Jan; 25(1):13. PubMed ID: 38178022
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.