WebThe sphingolipidoses are recessively inherited lysosomal disorders in which there is a deficiency of a specific lysosomal hydrolytic enzyme and consequent deposition of complex lipids in various tissues. From: Clinical Biochemistry: Metabolic and Clinical Aspects (Third Edition), 2014 View all Topics Add to Mendeley About this page WebKrabbe's disease (KD), or globoid cell leukodystrophy, was one of the first sphingolipidosis for which the raft concept offered a potential mechanism. KD is caused by mutations in …
Sphingolipidosis disease: Malacards - Research Articles, Drugs, …
WebDefinitions of SPHINGOLIPIDOSIS. A group of inherited metabolic disorders characterized by an excessive intra-lysosomal deposition of glycosphingolipids and … WebSphingolipidoses, including Gaucher's and Niemann–Pick diseases (E75.0-E75.1) Gangliosidosis (including Tay–Sachs disease (E75.2) Leukodystrophies (E76.0) Mucopolysaccharidoses, including Hunter syndrome and Hurler disease (E77) Glycoprotein storage disorders (E77.0-E77.1) Mucolipidoses opw publications
Sphingolipidosis definition of sphingolipidosis by Medical …
WebAbnormal sphingolipid metabolism is a characteristic of a variety of diseases known collectively as sphingolipidosis, or sphingolipodystrophy. One of the more common forms … Websphingolipidosis: [ sfing″go-lip″ĭ-do´sis ] a general designation applied to diseases characterized by abnormal storage of sphingolipids , such as gaucher's disease , niemann … WebStorage Diseases ・Sphingolipidosis Chart (Gangliosides, etc.) ・Sphingolipidosis Chart (Globosides) ・Biomarkers for Lysosomal Storage Diseases ・AOCS Reference Standards for Edible Oils ・Glucocerebrosides (Gaucher’s spleen) ・Long-Chain Fatty Acids 1,2 3 4 5,6 7 8 8 www.technochemical.com [email protected] portsmouth health and rehab 45662