Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability

Patients with primary serine biosynthetic defects manifest with intellectual disability, microcephaly, ichthyosis, seizures and peripheral neuropathy. The underlying pathogenesis of peripheral neuropathy in these patients has not been elucidated, but could be related to a decrease in the availabilit...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab
Main Authors: Ferreira, C.R., Goorden, S.M.I, Soldatos, A., Byers, M., der Vlugt, J.M.M. Ghauharali-van, Beers-Stet, FS, Groden, C., van Karnebeek, C.D, Gahl, W.A., Vaz, F.M., Jiang, X., Vernon, H.J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6057808/
https://ncbi.nlm.nih.gov/pubmed/29789193
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2018.05.001
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