lysosomal enzymopathy
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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
Hermansky–Pudlak syndrome — Classification and external resources ICD 10 E70.3 (ILDS E70.360) OMIM 203300 … Wikipedia
