Primary carnitine deficiency: adult onset lipid storage myopathy with a mild clinical course
Stefan Vielhaber(University Hospital Magdeburg), Wolfram S. Kunz(Klinikum Magdeburg), Joachim Kreuder(RWTH Aachen University), Michael Sailer(University of Augsburg), J. M. Schröder(Maastricht University), H. Feistner(University Hospital Magdeburg), Joachim Weis(Universitätsklinikum Aachen)
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