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Authors report on a Bicarnesine replacement therapy in an infant girl patient suffering from carnitine deficient myopathy diagnosed at 1 year of age. The hypotonic patient's motoric functions improved and she became able to walk as a result of therapy applied, but the pathological process generalized to encephalomyopathy. Free and esterified carnitine were determined from the serum and muscle biopsymaterial. After the Bicarnesine-supplementation the serum carnitine fractions elevated.


A László, L Klujber, A Svékus. Bicarnesine-treated carnitine deficient myopathy: clinico-chemical investigations. Acta paediatrica Hungarica. 1992;32(3):235-9

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PMID: 1476782

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