Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach
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DOI: 10.1002/jimd.12475
Abstract: A broad spectrum of signs and symptoms has been attributed to primary carnitine deficiency (PCD) since its first description in 1973. Advances in diagnostic procedures have improved diagnostic accuracy and the introduction of PCD in… read more here.
Keywords: case case; carnitine deficiency; primary carnitine; case ... See more keywords