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 cardiac death.
Gespeichert in:
| Hauptverfasser: | , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
10 April 2020
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| In: |
Orphanet journal of rare diseases
Year: 2020, Jahrgang: 15, Pages: 1-6 |
| ISSN: | 1750-1172 |
| DOI: | 10.1186/s13023-020-01371-2 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/s13023-020-01371-2
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| Verfasserangaben: | Sarah C. Grünert, Sara Tucci, Anke Schumann, Meike Schwendt, Gwendolyn Gramer, Georg F. Hoffmann, Michelle Erbel, Brigitte Stiller and Ute Spiekerkoetter |
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