lysosomal storage disorders


lysosomal storage disorders
лизосомные болезни накопления

Англо-русский медицинский словарь. 2012.

Смотреть что такое "lysosomal storage disorders" в других словарях:

  • 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

  • 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

  • Glycogen storage disorders — ▪ Table Glycogen storage disorders (GSDs) type enzyme defect clinical features type I (von Gierke disease) glucose 6 phosphatase hypoglycemia, enlarged liver and kidneys, gastrointestinal symptoms, nosebleeds, short stature, gout type II (Pompe… …   Universalium

  • lysosomal diseases — Diseases (also known as storage diseases) in which a deficiency of a particular lysosomal enzyme leads to accumulation of the undigested substrate for that enzyme within cells. Not immediately fatal, but within a few years lead to serious… …   Dictionary of molecular biology

  • Cholesteryl ester storage disease — Template:Cholesteryl Ester Storage Disease (CESD) Classification and external resources ICD 10 E75.5 ICD 9 272.7 …   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 — Classification and external resources Glycogen ICD 10 E74.0 …   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

  • metabolic disease — ▪ pathology Introduction       any of the diseases or disorders that disrupt normal metabolism, the process of converting food to energy on a cellular (cell) level. Thousands of enzymes participating in numerous interdependent metabolic pathways… …   Universalium

  • Morbus Fabry — Klassifikation nach ICD 10 E75.2 Sonstige Sphingolipidosen (inkl. Fabry (Anderson )Krankheit) …   Deutsch Wikipedia