Articles with "ngly1 mutations" as a keyword



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Unexplained death in patients with NGLY1 mutations may be explained by adrenal insufficiency

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Published in 2019 at "Physiological Reports"

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