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lysosomal storage disease
inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function
Details
- Instance of
- designated intractable/rare disease, type of disease
- Subclass of
- overload disease
- health specialty
- endocrinology
- topic's main category
- Category:Lysosomal storage diseases
Connected on Wikidata
Subject of
- Extension Study of HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Idursulfase-IT in Conjunction With Elaprase in Pediatric Participants With Hunter Syndrome and Cognitive Impairment
- Physician Initiated Expanded Access Request for Migalastat in Individual Patients With Fabry Disease
- A Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)
- Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
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