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Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt
We discuss two adult siblings who presented with symptoms of myalgia and rhabdomyolysis following exercise with myoglobinuria; genetic testing confirmed carnitine palmitoyltransferase II deficiency and resulted in institution of appropriate crisis management and dietary advice. We explore the phenot...
Gespeichert in:
| Veröffentlicht in: | Mol Genet Metab Rep |
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| Hauptverfasser: | , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Elsevier
2018
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5938603/ https://ncbi.nlm.nih.gov/pubmed/29744303 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2018.02.008 |
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