Primary carnitine deficiency – diagnosis after heart transplantation: better late than never! | Orphanet Journal of Rare Diseases | Full Text

Primary carnitine deficiency – diagnosis after heart transplantation: better late than never! | Orphanet Journal of Rare Diseases | Full Text

Primary carnitine deficiency – diagnosis after heart transplantation: better late than never!

Primary carnitine deficiency due to mutations in the SLC22A5 gene is a rare but well-treatable metabolic disorder that puts patients at risk for metabolic decompensations, skeletal and cardiac myopathy and sudden...

Authors:Sarah C. Grünert, Sara Tucci, Anke Schumann, Meike Schwendt, Gwendolyn Gramer, Georg F. Hoffmann, Michelle Erbel, Brigitte Stiller and Ute Spiekerkoetter

Citation:Orphanet Journal of Rare Diseases 2020 15:87

Content type:Research

Published on: 10 April 2020

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