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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Détails bibliographiques
Publié dans:Mol Genet Metab
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: 2018
Sujets:
Article
Accès en ligne: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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