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Description

Systemic carnitine deficiencya treatable inherited lipid-storage disease presenting as Reye's syndrome

In Families 3 (Patient 4 & 5) and 4 (patient 6), a known pathogenic c.190_191del (p.Lys64GlufsTer21) deletion variant was identified

We have previously shown that DHEA decreases glutathione S-transferase placental from (GST-p) foci in the liver and lipid peroxdation using a hepatocellular carcinoma model in rats (Kim & Choi, 2005)