Lysosomal Storage Diseases (Lysosomal Enzyme Disorders)

Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.


Diagnosis and therapies

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Symptoms and diagnosis

Symptoms:

    

Wikipedia

AspartylglucosaminuriaCystinosisCholesteryl ester

More information

Reported cases - Summary of cases reported on this diseaseWHO - World Health OrganizationPubMed - A service of the National Library of Medicine and National Institutes of HealthMEDLINE - Literature from the National Library of MedicineMeSH - Medical Subject HeadingsDeCS - Health Sciences Descriptors

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