Rare novel LPL mutations are associated with neonatal onset lipoprotein lipase (LPL) deficiency in two cases
Abstract Background Lipoprotein lipase (LPL) deficiency is a monogenic lipid metabolism disorder biochemically characterized by hypertriglyceridemia (HTG) inherited in an autosomal recessive manner. Neonatal onset LPL deficiency is rare. The purpose of this study was to clarify the clinical features...
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BMC,
2021-09-01T00:00:00Z.
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