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- W2897923751 abstract "Neutral lipid storage disease with myopathy (NLSDM) is characterized by the accumulation of cytoplasmic triglyceride droplets in various tissues; this very rare condition is caused by mutations in the PNPLA2 gene, susceptible to specific pharmacological management that decreases clinical progression. We describe the clinical and biochemical characteristics of a Colombian patient with a previously unreported homozygous mutation in the PNPLA2 gene with a difficult to manage disease, who was diagnosed late by advances in molecular techniques." @default.
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- W2897923751 date "2018-12-01" @default.
- W2897923751 modified "2023-09-26" @default.
- W2897923751 title "Neutral lipid storage disease with myopathy and dropped head syndrome. Report of a new variant susceptible of treatment with late diagnosis" @default.
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- W2897923751 doi "https://doi.org/10.1016/j.jocn.2018.10.046" @default.
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