Diagnosis and epidemiology of red blood cell enzyme disorders

The red blood cell possess an active metabolic machinery that provides the cell with energy to pump ions against electrochemical gradients, to maintain its shape, to keep hemoglobin iron in the reduced (ferrous) form, and to maintain enzyme and hemoglobin sulfhydryl groups.The main source of metabolic energy comes from glucose.Glucose is metabolize

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Would You Figure It Out? Differential Diagnoses: Beyond the Usual

The Synageva BioPharma-sponsored symposium discussed the differential diagnoses for liver diseases that may be under-recognised in clinical settings, with a focus on lysosomal acid lipase deficiency (LAL D).LAL D is a lysosomal storage disorder caused by deficient activity of the lysosomal acid lipase enzyme, resulting in the accumulation of choles

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