Natural history and biomarkers in hereditary sensory neuropathy type 1

Introduction: Hereditary sensory and autonomic neuropathy type 1 (HSAN1) is most commonly caused by missense mutations in SPTLC1. In this study we mapped symptom progression and compared the utility of outcomes. Methods: We administered retrospective surveys of symptoms and analyzed results of nerve...

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Detalles Bibliográficos
Autores principales: Fridman, Vera, Oaklander, Anne louise, David, William S, Johnson, Elise A, Pan, Jessica, Novak, Peter, Brown, Robert H, Eichler, Florian S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4484799/
https://www.ncbi.nlm.nih.gov/pubmed/25042817
http://dx.doi.org/10.1002/mus.24336

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4484799/
https://www.ncbi.nlm.nih.gov/pubmed/25042817
http://dx.doi.org/10.1002/mus.24336

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