Article

Neurological manifestations in Pakistani lysosomal storage disorders patients and molecular characterization of Gaucher disease

2021-01-01

Abstract excerpt

Lysosomal storage disorders (LSDs) are a large group of inborn errors of metabolism each caused by genetic mutations of a particular lysosomal protein encoding gene. These inherited conditions are characterized by lysosomal dysfunction with wide variety of organ impact sometimes organ failure with growing age. Neurological complications in LSD cases range from severe neurodegenerations in 70% cases to mild symptom...

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Literature Corpus work: 44f4757e-4b16-5fac-8822-45baa7d26c46
DOI: 10.2298/gensr2103017g

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