Identifier |
wh_ch11_p485_3 |
Title |
Walsh & Hoyt: Storage Diseases and Cerebral Degenerations of Childhood |
Creator |
Nancy J. Newman, MD |
Affiliation |
Emory Eye Center |
Subject |
Optic Nerve Diseases; Genetic Diseases, Inborn; Storage Diseases; Cerebral Degenerations of Childhood |
Description |
About 100 inherited metabolic diseases with ocular manifestations have been described. Among these, the lysosomal storage disorders are monogenic inborn errors of metabolism with heterogeneous pathophysiology and clinical manifestations. They represent more than 40 disorders, each of which is caused by the deficiency of a lysosomal enzyme or other protein. The stored material is usually a complex lipid or saccharide, and the nervous system is commonly affected. The inheritance pattern in these diseases is almost always recessive, usually autosomal recessive, but occasionally X-linked. |
Date |
2005 |
Language |
eng |
Format |
application/pdf |
Type |
Text |
Source |
Walsh and Hoyt's Clinical Neuro-Ophthalmology, 6th Edition |
Relation is Part of |
Walsh and Hoyt's Clinical Neuro-Ophthalmology Walsh and Hoyt's Clinical Neuro-Ophthalmology |
Collection |
Neuro-Ophthalmology Virtual Education Library: Walsh and Hoyt Textbook Selections Collection: https://NOVEL.utah.edu |
Publisher |
Wolters Kluwer Health, Philadelphia |
Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
Rights Management |
Copyright 2005. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
ARK |
ark:/87278/s69d05t8 |
Setname |
ehsl_novel_whts |
ID |
185633 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s69d05t8 |