- inborn lysosomal disease
- lysosomal storage d.
Medical dictionary. 2011.
Medical dictionary. 2011.
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
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
Inborn error of metabolism — Classification and external resources ICD 10 E70 E90 ICD 9 … Wikipedia
Inborn error of lipid metabolism — Classification and external resources Several fatty acid molecules ICD 10 E75 … Wikipedia
Cholesteryl ester storage disease — Template:Cholesteryl Ester Storage Disease (CESD) Classification and external resources ICD 10 E75.5 ICD 9 272.7 … Wikipedia
Niemann-Pick disease, type C — Classification and external resources ICD 10 E75.2 (ILDS E75.230) ICD 9 272.7 … Wikipedia
Niemann–Pick disease — Niemann Pick disease Classification and external resources ICD 10 E75.2 (ILDS E75.230) ICD 9 272.7 … Wikipedia
I-cell disease — Classification and external resources Mannose 6 phosphate (M6P). I cell disease involves a failure to add M6P to proteins. ICD 10 E … Wikipedia
Farber disease — Classification and external resources ICD 10 E75.2 (ILDS E75.240) ICD 9 272.8 … Wikipedia
Niemann-Pick disease, SMPD1-associated — Classification and external resources ICD 10 E75.2 (ILDS E75.230) ICD 9 272.7 … Wikipedia