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The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy

Sphingolipids (SL) represent a structurally diverse class of lipids that are central to cellular physiology and neuronal development and function. Defects in the sphingolipid metabolism are typically associated with nervous system disorders. The C4-dihydroceramide desaturase (DEGS1) catalyzes the co...

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Autores principales: Andreas J. Hülsmeier, Sandra P. Toelle, Peter Bellstedt, Christian Wentzel, Angela Bahr, Konstantinos Kolokotronis, Thorsten Hornemann
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2023-12-01
Colección:Journal of Lipid Research
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Acceso en línea:http://www.sciencedirect.com/science/article/pii/S0022227523001372
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