lysosomal storage disease

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• Lysosomal storage disease — The lysosomal storage diseases are a group of over forty human genetic disorders that result from defects in lysosomal function. [cite journal |author=Winchester B, Vellodi A, Young E |title=The molecular basis of lysosomal storage diseases and… …   Wikipedia

• lysosomal storage disease — any inborn error of metabolism having four characteristics: (1) a defect in a specific lysosomal hydrolase; (2) intracellular accumulation of the unmetabolized substrate; (3) clinical progression affecting multiple tissues and organs; (4)… …   Medical dictionary

• Cholesteryl ester storage disease — Template:Cholesteryl Ester Storage Disease (CESD) Classification and external resources ICD 10 E75.5 ICD 9 272.7 …   Wikipedia

• cholesteryl ester storage disease — (CESD) a relatively mild lysosomal storage disease caused by deficiency of the lysosomal sterol esterase; hepatomegaly may be the only clinical abnormality; hyperbetalipoproteinemia is common, and there is often severe premature atherosclerosis;… …   Medical dictionary

• Glycogen storage disease — Classification and external resources Glycogen ICD 10 E74.0 …   Wikipedia

• lysosomal enzymopathy — lysosomal storage disease …   Medical dictionary

• Glycogen storage disease type II — Infobox Disease Name = Glycogen storage disease type II Caption = DiseasesDB = 5296 ICD10 = ICD10|E|74|0|e|70 ICD9 = ICD9|271.0 ICDO = OMIM = 232300 MedlinePlus = eMedicineSubj = med eMedicineTopic = 908 eMedicine mult = eMedicine2|ped|1866 |… …   Wikipedia

• Glycogen storage disease type V — Classification and external resources ICD 10 E74.0 ICD 9 271.0 …   Wikipedia

• Glycogen storage disease type III — Classification and external resources Micrograph of glycogen storage disease with histologic features consistent with Cori disease. Liver biopsy. H E stain …   Wikipedia

• glycogen storage disease — Pathol. any of several inherited disorders of glycogen metabolism that result in excess accumulation of glycogen in various organs of the body. Also called glycogenosis /gluy koh jeuh noh sis/. * * * or glycogenosis Any of numerous types of… …   Universalium

• Disease — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… …   Medical dictionary