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PUBMED FOR HANDHELDS

Journal Abstract Search


432 related items for PubMed ID: 20631720

  • 21. 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; 2024 Aug; 20(8):848-858. PubMed ID: 38070096
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  • 23. Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.
    Miousse IR, Watkins D, Coelho D, Rupar T, Crombez EA, Vilain E, Bernstein JA, Cowan T, Lee-Messer C, Enns GM, Fowler B, Rosenblatt DS.
    J Pediatr; 2009 Apr; 154(4):551-6. PubMed ID: 19058814
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  • 24. 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
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  • 29. 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
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  • 30. Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
    Law LK, Tang NL, Hui J, Fung SL, Ruiter J, Wanders RJ, Fok TF, Lam CW.
    Clin Chim Acta; 2009 Jun 27; 404(2):95-9. PubMed ID: 19265687
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  • 36. Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.
    Martínez MA, Rincón A, Desviat LR, Merinero B, Ugarte M, Pérez B.
    Mol Genet Metab; 2005 Apr 27; 84(4):317-25. PubMed ID: 15781192
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  • 37. [Pulmonary arterial hypertension as leading manifestation of methylmalonic aciduria: clinical characteristics and gene testing in 15 cases].
    Liu XQ, Yan H, Qiu JX, Zhang CY, Qi JG, Zhang X, Xiao HJ, Yang YL, Chen YH, Du JB.
    Beijing Da Xue Xue Bao Yi Xue Ban; 2017 Oct 18; 49(5):768-777. PubMed ID: 29045954
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