Neutral lipid storage disease with myopathy: A 10-year follow-up case report

Mutations in PNPLA2 gene encoding for adipose triglyceride lipase (ATGL), involved in triglyceride degradation, lead to an inborn error of neutral lipid metabolism. The disorder that results in abnormal storage of neutral lipid is known as neutral lipid storage disease with myopathy (NLSDM). We repo...

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Detalles Bibliográficos
Autores principales: Missaglia, Sara, Tavian, Daniela, Angelini, Corrado
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Publications, Pavia, Italy 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9295162/
https://www.ncbi.nlm.nih.gov/pubmed/35713537
http://dx.doi.org/10.4081/ejtm.2022.10645

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9295162/
https://www.ncbi.nlm.nih.gov/pubmed/35713537
http://dx.doi.org/10.4081/ejtm.2022.10645

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