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...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Sarah C. Gr ünert, Sara Tucci, Anke Schumann, Meike Schwendt, Gwendolyn Gramer, Georg F. Hoffmann, Michelle Erbel, Brigitte Stiller and Ute Spiekerkoetter Tags: Research Source Type: research
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