Unexplained death in patients with NGLY1 mutations may be explained by adrenal insufficiency
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DOI: 10.14814/phy2.13979
Abstract: 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… read more here.
Keywords: ngly1 mutations; patients ngly1; unexplained death; adrenal insufficiency ... See more keywords