LPIN1 rhabdomyolysis: A single site cohort description and treatment recommendations
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference22 articles.
1. The lipin family: mutations and metabolism;Reue;Curr. Opin. Lipidol.,2009
2. Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood;Zeharia;Am. J. Human Genet.,2008
3. LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood;Michot;Hum. Mutat.,2010
4. LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy;Meijer;Mol. Genet. Metabol. Rep.,2015
5. Fatal rhabdomyolysis in 2 children with LPIN1 mutations;Bergounioux;J. Pediatr.,2012
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. LPIN1-related Acute Rhabdomyolysis Mimicking Landry Guillain-Barré Syndrome in a Child;Indian Journal of Pediatrics;2024-09-07
2. Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients;Journal of Inherited Metabolic Disease;2023-02-03
3. Two tales of LPIN1 deficiency: from fatal rhabdomyolysis to favorable outcome of acute compartment syndrome;Neuromuscular Disorders;2022-12
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