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Metabolomic Studies of Lipid Storage Disorders, with Special Reference to Niemann-Pick Type C Disease: A Critical Review with Future Perspectives

Lysosomal storage disorders (LSDs) are predominantly very rare recessive autosomal neurodegenerative diseases.Sphingolipidoses, a sub-group of LSDs, result from defects in lysosomal enzymes involved in sphingolipid catabolism, and feature disrupted storage systems which trigger complex pathogenic ca...

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Detalles Bibliográficos
Autores principales:	Percival, Benita Claire, Gibson, Miles, Wilson, Philippe B., Platt, Frances M., Grootveld, Martin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7178094/ https://www.ncbi.nlm.nih.gov/pubmed/32260582 http://dx.doi.org/10.3390/ijms21072533

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