Sialidosis Type 1 Without Cherry-Red Spot

Update Item Information
Title Sialidosis Type 1 Without Cherry-Red Spot
Creator Alaa S. Bou Ghannam; Lauren C. Mehner; Victoria S. Pelak
Affiliation Departments of Ophthalmology (ASBG, LCM, VSP); and Neurology (ABG, VSP), University of Colorado School of Medicine, Aurora, Colorado
Abstract Sialidosis is an autosomal recessive lysosomal storage disease caused by mutations in the neuraminidase 1 (NEU1) gene located on 6p21.33 chromosome leading to low levels of alpha-N-acetylneuraminidase (sialidase) and accumulation of sialyloligosaccharides.
Subject Adult; Diagnostic Techniques, Ophthalmological; Eye Movement Measurements; Humans; Male; Mucolipidoses / diagnosis; Mucolipidoses / physiopathology; Tomography, Optical Coherence
OCR Text Show
Date 2019-09
Language eng
Format application/pdf
Type Text
Publication Type Journal Article
Source Journal of Neuro-Ophthalmology, September 2019, Volume 39, Issue 3
Collection Neuro-Ophthalmology Virtual Education Library - Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/
Publisher Lippincott, Williams & Wilkins
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah, 10 N 1900 E SLC, UT 84112-5890
Rights Management © North American Neuro-Ophthalmology Society
ARK ark:/87278/s60635d5
Setname ehsl_novel_jno
ID 1595897
Reference URL https://collections.lib.utah.edu/ark:/87278/s60635d5
Back to Search Results