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Unexplained death in patients with NGLY1 mutations may be explained by adrenal insufficiency
Homozygous mutations in NGLY1 were recently found to cause a condition characterized by a complex neurological syndrome, hypo‐ or alacrimia, and elevated liver transaminases. For yet unknown reasons, mortality is increased in patients with this condition. NGLY1 encodes the cytosolic enzyme N‐glycana...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369059/ https://www.ncbi.nlm.nih.gov/pubmed/30740912 http://dx.doi.org/10.14814/phy2.13979 |