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先天代謝異常症の診療指針 - jsimd.net

1 Congenital Lactic Acidosis: CLA TCA MRC PDHC PC (PEPCK) TCA MRC MRC / L/P (19mg/dL) (16mg/dL) L/P 7 20 CLA 4 6mM 36 54mg/dL B1 7mM 450 M Ala/Lys 3 Copyright 2012 Japanese Society for Inherited Metabolic Disease 2 MR MRI CLA L/P 3- / 3-OHB/AA 1 PDHC L/P 3-OHB/AA PC L/P 3-OHB/AA

1 先天性高乳酸血症症候群(Congenital Lactic Acidosis: CLA) 高乳酸血症を来す症例に遭遇した場合は、まず心不全他の二次的高乳酸血症

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