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Novel Asp511Thr mutation in McArdle disease with acute kidney injury caused by rhabdomyolysis
McArdle disease (glycogen storage disease type V) is a rare hereditary metabolic myopathy. It can be overlooked clinically because it often presents as chronic asymptomatic hypercreatine phosphokinasemia (hyperCKemia). However, vigorous exercise or infections can trigger severe rhabdomyolysis. We pr...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | CEN Case Rep |
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| Κύριοι συγγραφείς: | , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Springer Singapore
2019
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6620219/ https://ncbi.nlm.nih.gov/pubmed/30900170 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13730-019-00392-6 |
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