Učitavanje...
A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1
BACKGROUND: Lipin-1, encoded by LPIN1 gene, serves as an enzyme and a transcriptional co-regulator to regulate lipid metabolism and mitochondrial respiratory chain. Autosomal recessive mutations in LPIN1 were recognized as one of the most common causes of pediatric recurrent rhabdomyolysis in wester...
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| Izdano u: | BMC Pediatr |
|---|---|
| Glavni autori: | , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BioMed Central
2020
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7222443/ https://ncbi.nlm.nih.gov/pubmed/32410653 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-020-02134-5 |
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