Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C

Hereditary sensory neuropathy type 1 (HSAN1) may be the first genetic neuropathy amenable to a specific mechanism-based treatment, as L-serine supplementation can be used to lower the neurotoxic levels of 1-deoxysphingolipids (1-deoxySL) that cause the neurodegeneration. The treatment is so far unte...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Cold Spring Harb Mol Case Stud
Prif Awduron: Auranen, Mari, Toppila, Jussi, Suriyanarayanan, Saranya, Lone, Museer A., Paetau, Anders, Tyynismaa, Henna, Hornemann, Thorsten, Ylikallio, Emil
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Cold Spring Harbor Laboratory Press 2017
Pynciau:
Research Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5701299/
https://ncbi.nlm.nih.gov/pubmed/29042446
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a002212
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