Case Report: The first probable Hong Kong Chinese case of LPIN1-related acute recurrent rhabdomyolysis in a boy with two novel variants

Recurrent rhabdomyolysis is frequently ascribed to fatty acid ß-oxidation defects, mitochondrial respiratory chain disorders and glycogen storage-related diseases. In recent years, autosomal recessive LPIN1 mutations have been identified as a prevailing cause of severe rhabdomyolysis in children in...

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Vydáno v:F1000Res
Hlavní autoři: Yim, Sau Wing, Chan, Tina Yee Ching, Belaramani, Kiran M., Man, Sze Shun, Wong, Felix Chi Kin, Chen, Sammy Pak Lam, Lee, Hencher Han Chih, Mak, Chloe Miu, Ching, Chor Kwan
Médium: Artigo
Jazyk:Inglês
Vydáno: F1000 Research Limited 2019
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6823901/
https://ncbi.nlm.nih.gov/pubmed/31723421
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/f1000research.20343.1
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