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名词信息
中 文 名:
甲基丙二酸尿症肾病
英 文 名:
methylmalonic aciduria associated nephropathy
中文又称:
中文曾称:
名词来源:
所属专业:
肾内科
所属类别:
疾病诊断名词
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Pubmed相关的文献
methylmalonic aciduria associated nephropathy
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Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.
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[Kidney disease in cobalamin C deficiency].
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Combined liver-kidney transplantation for rare diseases.
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Primary Pulmonary Hypertension Associated with Asymptomatic Methylmalonic Aciduria in a Child.
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Late-onset methylmalonic acidemia and homocysteinemia.
Brox-Torrecilla N, Arhip L, Miguélez-González M, Castellano-Gasch S, Contreras-Chicote A, Rodríguez-Ferrero ML, Motilla de la Cámara ML, Serrano-Moreno C, Cuerda Compes C.
Nutr Hosp. 2021 Jul 29;38(4):871-875. doi: 10.20960/nh.03623.
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Methylmalonic aciduria: follow-up and enzymology on the original case after 36 years.
Bain MD, Till J, Jones MG, Besley GT, Lee P, Oliveira D, Chalmers RA.
J Inherit Metab Dis. 2005;28(6):1179-80. doi: 10.1007/s10545-005-0244-1.
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Mitochondrial Distress in Methylmalonic Acidemia: Novel Pathogenic Insights and Therapeutic Perspectives.
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Cells. 2022 Oct 10;11(19):3179. doi: 10.3390/cells11193179.
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Methylmalonic acidemia. A disorder associated with acidosis, hyperglycinemia, and hyperlactatemia.
Lindblad B, Lindblad BS, Olin P, Svanberg B, Zetterström R.
Acta Paediatr Scand. 1968 Sep;57(5):417-24. doi: 10.1111/j.1651-2227.1968.tb07314.x.
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A derangement in B12 metabolism associated with homocystinemia, cystathioninemia, hypomethioninemia and methylmalonic aciduria.
Levy HL, Mudd SH, Schulman JD, Dreyfus PM, Abeles RH.
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Late-onset renal TMA and tubular injury in cobalamin C disease: a report of three cases and literature review.
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