Molecular analysis of LPIN1 in Jordanian patients with rhabdomyolysis
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference30 articles.
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2. Fatal rhabdomyolysis in 2 children with LPIN1 mutations;Bergounioux;J. Pediatr.,2012
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4. Evolutionary genomics of the HAD superfamily: understanding the structural adaptations and catalytic diversity in a superfamily of phosphoesterases and allied enzymes;Burroughs;J. Mol. Biol.,2006
5. Identification of single-nucleotide polymorphisms in the human LPIN1 gene;Cao;J. Hum. Genet.,2002
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1. Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients;Journal of Inherited Metabolic Disease;2023-02-03
2. LPIN1 rhabdomyolysis: A single site cohort description and treatment recommendations;Molecular Genetics and Metabolism Reports;2022-03
3. Acute recurrent rhabdomyolysis in a Chinese boy associated with a novel compound heterozygous LPIN1 variant: a case report;BMC Neurology;2021-01-29
4. Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish;Theranostics;2021
5. Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature;Case Reports in Medicine;2020-05-28
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