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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:CEN Case Rep
Päätekijät: Satoh, Ayaka, Hirashio, Shuma, Arima, Takahiro, Yamada, Yumi, Irifuku, Taisuke, Ishibashi, Haruka, Motoda, Atsuko, Sueda, Yoshimasa, Masaki, Takao
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Springer Singapore 2019
Aiheet:
Case Report
Linkit: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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