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- W27587130 abstract "Abstract: We report the case of a patient who at age 39 first developed an episode of muscle weakness and transient ketoacidosis with biopsy proven fatty infiltration of the liver. Over the next several years, myopathy ensued; biopsy revealed extensive deposition of lipid globules in type 1 muscle fibres. Further investigations established the diagnosis of systemic carnitine deficiency (SCD) with skeletal muscle, hepatic, and cardiac involvement. The patient has benefited from L-carnitine supplementation. Our case represents an unusually late onset of SCD and highlights the necessity, when appropriate, of a high index of suspicion of this rare but treatable disorder." @default.
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- W27587130 date "1987-02-01" @default.
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- W27587130 title "Adult Onset Systemic Carnitine Deficiency: Favorable Response to L-Carnitine Supplementation" @default.
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- W27587130 doi "https://doi.org/10.1017/s0317167100026172" @default.
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