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维生素B_(12)反应型甲基丙二酸尿症病例报道

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摘要 甲基丙二酸尿症(thylnlalonic aciduda,MMA)是一组遗传代谢性疾病,晚发病例多以神经系统症状为主要表现,而神经内科医师对此病了解不多,易漏诊及误诊。本文报道1例晚发型MMA患者的病史资料及辅助检查,并收集相关文献,加深对该病的认识。
出处 《神经损伤与功能重建》 2016年第5期462-463,共2页 Neural Injury and Functional Reconstruction
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  • 1王朝霞,张巍,杨艳玲,袁云.迟发型甲基丙二酸尿症三例临床和影像学分析[J].中华神经科杂志,2004,37(4):327-330. 被引量:24
  • 2Paulet A, Perermou D, Moreau T, et al. The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum. J Neurol Neurosurg Psychiatry,2008,79:725-728.
  • 3Wajner M, Coelho JC. Neurological dysfunction in methylmalonic acidaemia is probably related to the inhibitory effect of methylmalonate on brain energy production. J Inherit Metab Dis, 1997,20:761-768.
  • 4Sedel F, Fontaine B, Saudubray JM, et al. Hereditary spastic paraparesis in adults associated with inborn errors of metabolism : a diagnostic approach. J Inherit Metab Dis, 2007,30:855-864.
  • 5Tsai AC, Morel CF, Scharer G, et al. Late-onset combined homocystinuria and methylmalonic aciduria ( cblC ) and neuropsychiatric disturbance. Am J Med Genet A, 2007, 143A : 2430-2434.
  • 6Roze E, Gervais D, Demeret S, et al. Neuropsychiatric disturbances in presumed late-onset cobalamin C disease. Arch Neurol, 2003,60 : 1457-1462.
  • 7Patton N, Beatty S, Lloyd IC, et al. Optic atrophy in association with cobalamin C (cblC) disease. Ophthalmic Genet, 2000,21: 151-154.
  • 8Michel SJ, Given CA 2nd, Robertson WC Jr. Imaging of the brain, including diffusion-weighted imaging in methylmalonic acidemia. Pediatr Radiol, 2004,34:580-582.
  • 9侯玥,洪燕,陈伟强,李树田,王冬兰,程义勇.高同型半胱氨酸对大鼠神经元的损伤作用及其相关机制的研究[J].中国应用生理学杂志,2007,23(3):293-297. 被引量:19
  • 10Fenton WA, Gravel RA, Rosenblatt DS. Disorders of propionate and methylmalonate metabolism. In: Scriver CR, Beaudet AL, Sly WS,et al, eds. The Metabolic and Molecular Bases of Inherited Disease.8th ed. New York: McGraw-Hill, 2001. 2165-2198.

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