| INLSD | ichthyosis and neutral lipid storage disease |
|---|---|
| ISIS | image selected in vivo spectroscopy; imaging science and information system; information system-imag... |
| ABC | absolute basophil count; absolute bone conduction; acalculous biliary colic; acid balance control; a... |
| DASD | Direct Access Storage Device = RAM |
| SPD | Storage Pool Disease |
| glycogen storage disease type VII | <disease> An autosomal recessive muscle glycogen storage disease in which there is deficient expression of muscle phosphofructokinase activity, resulting in increased concentrations of glucose-6-phosphate and fructose-6-phosphate and low concentrations of fructose-1,6-diphosphate in muscle tissue. Glycogen storage in muscle is increased, perhaps due to activation of glycogen synthase by accumulated glucose-6-phosphate. It has been proposed that shunting of glucose-6-phosphate and fructose-6-phosphate into the pentose phosphate pathway may result in increased synthesis of purines and pyrimidines, causing hyperuricaemia and gout. Erythrocytes from patients may show decreased phosphofructokinase activity and 2,3-diphosphoglycerate deficiency. Exercise intolerance is present and severe congenital muscular dystrophy has been reported. Inheritance: autosomal recessive (12 Dec 1998) |
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| glycogen storage disease type VIII | <disease> An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon. Inheritance: X-linked recessive (12 Dec 1998) |
| cholesterol ester storage disease | A rare benign adult form of inherited lysosomal lipid storage disease that is due to deficiency of acid lipase. It results in an accumulation of neutral lipids, particularly cholesterol esters, within cells (particularly leukocytes, fibroblasts, and liver cells). It is an allelic variant of wolman disease. (12 Dec 1998) |
| phytanic acid storage disease | A genetic disorder of the fatty acid phytanic acid which accumulates and causes a number of progressive problems including polyneuritis (inflammation of numerous nerves), diminishing vision (due to retinitis pigmentosa), and wobbliness (ataxia) caused by damage to the cerebellar portion of the brain (cerebellar ataxia). (12 Dec 1998) |
| computer storage devices | Devices capable of receiving data, retaining data for an indefinite or finite period of time, and supplying data upon demand. (12 Dec 1998) |
| platelet storage pool deficiency | A group of disorders characterised by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5ht are normally stored. (12 Dec 1998) |
| cystine storage disease | Lysosomal storage disorders of unknown molecular defect, characterised by widespread deposition of cystine crystals in reticuloendothelial cells. (12 Dec 1998) |
| storage | 1. The act of depositing in a store or warehouse for safe keeping; also, the safe keeping of goods in a warehouse. 2. Space for the safe keeping of goods. 3. The price changed for keeping goods in a store. Storage battery. <physics> See the Note under Battery. Source: Websters Dictionary (01 Mar 1998) |
| storage disease | <disease> Another name for lysosomal diseases. (18 Nov 1997) |
| storage granule | 1. <cell biology> Membrane bounded vesicles containing condensed secretory materials (often in an inactive, zymogen, form). Otherwise known as zymogen granules or condensing vacuoles. 2. Granules found in plastids or in cytoplasm, assumed to be food reserves, often of glycogen or other carbohydrate polymer. (18 Nov 1997) |
| storage pool disease | <disease> A form of congenital platelet functional defect that result in prolongation of the bleeding time. (27 Sep 1997) |
| storage protein deamidase | <enzyme> Deamidates glutaminyl residues; isolated from germinating wheat grains Registry number: EC 3.5.1.- Synonym: seed storage protein deamidase (26 Jun 1999) |
| neutral lipid storage disease | <syndrome> Congenital ichthyosis, leukocyte vacuoles, and variable involvement of other organ systems. Synonym: neutral lipid storage disease. (05 Mar 2000) |
| disease, lipid storage | A series of disorders due to inborn errors in lipid metabolism resulting in the abnormal accumulation of lipids in the wrong places (Examples include Gaucher, Fabry and Niemann-Pick diseases and metachromatic leukodystrophy). (12 Dec 1998) |
| disease, phytanic acid storage | A genetic disorder of the fatty acid phytanic acid which accumulates and causes a number of progressive problems including polyneuritis (inflammation of numerous nerves), diminishing vision (due to retinitis pigmentosa), and wobbliness (ataxia) caused by damage to the cerebellar portion of the brain (cerebellar ataxia).(refsum's disease) (12 Dec 1998) |