Neurological Consequences of Sphingosine Phosphate Lyase Insufficiency

In 2017, an inborn error of metabolism caused by recessive mutations in SGPL1 was discovered. The disease features steroid-resistant nephrotic syndrome, adrenal insufficiency, and neurological defects. The latter can include sensorineural hearing loss, cranial nerve defects, peripheral neuropathy, a...

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Detalles Bibliográficos
Autores principales: Atreya, Krishan B., Saba, Julie D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Cellular Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9519528/
https://www.ncbi.nlm.nih.gov/pubmed/36187293
http://dx.doi.org/10.3389/fncel.2022.938693

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9519528/
https://www.ncbi.nlm.nih.gov/pubmed/36187293
http://dx.doi.org/10.3389/fncel.2022.938693

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