Associated Papers
Effects of Triheptanoin on Mitochondrial Respiration and Glycolysis in Cultured Fibroblasts from Neutral Lipid Storage Disease Type M (NLSD-M) Patients.
Noguera NI et al.
Biomolecules, 2023
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.
Pennisi EM et al.
Orphanet Journal of Rare Diseases, 2017
Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings.
Missaglia S et al.
Molecular Genetics and Metabolism, 0
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