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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| Format: | Artigo |
| Sprache: | Inglês |
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Frontiers Media S.A.
2022-09-01
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| Schriftenreihe: | Frontiers in Cellular Neuroscience |
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| Online-Zugang: | https://www.frontiersin.org/articles/10.3389/fncel.2022.938693/full |
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