Oral l-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1

Hereditary sensory and autonomic neuropathy type 1 (HSAN1) causes sensory loss that predominantly affects the lower limbs, often preceded by hyperpathia and spontaneous shooting or lancinating pain. It is caused by several missense mutations in the genes encoding 2 of the 3 subunits of the enzyme se...

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Hlavní autoři: Garofalo, Kevin, Penno, Anke, Schmidt, Brian P., Lee, Ho-Joon, Frosch, Matthew P., von Eckardstein, Arnold, Brown, Robert H., Hornemann, Thorsten, Eichler, Florian S.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2011
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3225995/
https://ncbi.nlm.nih.gov/pubmed/22045570
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI57549
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