BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 33324334)

  • 1. Peripheral Nervous System Involvement in Late-Onset Cobalamin C Disease?
    Chu X; Meng L; Zhang W; Luo J; Wang Z; Yuan Y
    Front Neurol; 2020; 11():594905. PubMed ID: 33324334
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager.
    Cheng S; Chen W; Zhao M; Xing X; Zhao L; Ren B; Li N
    Front Genet; 2022; 13():1012558. PubMed ID: 36338977
    [No Abstract]   [Full Text] [Related]  

  • 5. Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series.
    Wang SJ; Yan CZ; Wen B; Zhao YY
    Neuropsychiatr Dis Treat; 2019; 15():549-555. PubMed ID: 30863077
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.
    Frattini D; Fusco C; Ucchino V; Tavazzi B; Della Giustina E
    Pediatr Neurol; 2010 Aug; 43(2):135-8. PubMed ID: 20610126
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Late-onset cblC defect: clinical, biochemical and molecular analysis.
    Ding S; Ling S; Liang L; Qiu W; Zhang H; Chen T; Zhan X; Xu F; Gu X; Han L
    Orphanet J Rare Dis; 2023 Sep; 18(1):306. PubMed ID: 37770946
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
    Lerner-Ellis JP; Anastasio N; Liu J; Coelho D; Suormala T; Stucki M; Loewy AD; Gurd S; Grundberg E; Morel CF; Watkins D; Baumgartner MR; Pastinen T; Rosenblatt DS; Fowler B
    Hum Mutat; 2009 Jul; 30(7):1072-81. PubMed ID: 19370762
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Late-onset cobalamin C deficiency type in adult with cognitive and behavioral disturbances and significant cortical atrophy and cerebellar damage in the MRI: a case report.
    Sun M; Dai Y
    Front Neurol; 2023; 14():1308289. PubMed ID: 38148982
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [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]  

  • 17. 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]  

  • 18. 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]  

  • 19. PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
    Cavicchi C; Oussalah A; Falliano S; Ferri L; Gozzini A; Gasperini S; Motta S; Rigoldi M; Parenti G; Tummolo A; Meli C; Menni F; Furlan F; Daniotti M; Malvagia S; la Marca G; Chery C; Morange PE; Tregouet D; Donati MA; Guerrini R; Guéant JL; Morrone A
    Clin Epigenetics; 2021 Jul; 13(1):137. PubMed ID: 34215320
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.