LPIN1 rhabdomyolysis: A single site cohort description and treatment recommendations

Individuals with LPIN1 deficiency have early recurrent, life-threatening rhabdomyolysis but the full phenotypic spectrum and optimal treatment of the disorder remains unknown. Here we report the clinical details and treatment outcomes of 6 patients from our health system. The average age of presenta...

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Detalles Bibliográficos
Autores principales: Kanderi, Navya, Kirmse, Brian, Regier, Debra S., Chapman, Kimberly A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8856908/
https://www.ncbi.nlm.nih.gov/pubmed/35242575
http://dx.doi.org/10.1016/j.ymgmr.2022.100844

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8856908/
https://www.ncbi.nlm.nih.gov/pubmed/35242575
http://dx.doi.org/10.1016/j.ymgmr.2022.100844

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