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storage disease
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Genetic Markers
Most Correlated Genes
Most Correlated SNPs
GLB1
GNPTAB
CTNS
GM2A
HEXB
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
hydrolase activity, acting on glycosyl bonds
REACTOME_GLYCOSPHINGOLIPID_METABOLISM
hydrolase activity, hydrolyzing O-glycosyl compounds
REACTOME_SPHINGOLIPID_METABOLISM
REACTOME_METABOLISM_OF_CARBOHYDRATES
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Curated Studies
Most Correlated Studies
Mouse Phenotypes - Dysostosis multiplex group
Mouse Phenotypes - Cardiomyopathy
Mouse Phenotypes - Hemochromatosis
Mouse Phenotypes - Metabolic disease
Mouse Phenotypes - Congenital anomaly of abdomen
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Literature
Most Relevant Literature
New strategies for the treatment of lysosomal storage diseases (review).
Clarifying lysosomal storage diseases.
Skeletal abnormalities in lysosomal storage diseases.
Detection of a novel mutation in the GAA gene in an Iranian child with glycogen storage disease type…
Production of α-L-iduronidase in maize for the potential treatment of a human lysosomal storage dise…
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Clinical Trials
Most Relevant Clinical Trials
Study of Glycogen Storage Disease Expression in Carriers
Study of the Relationship Between Glycogen Storage Disease Type Ia and Inflammatory Bowel Disease
Study of Glycogen Storage Disease and Associated Disorders
Prospective Collection of Biospecimen in Pediatric Patients and Adult Guardians Diagnosed With Glyco…
An Observational Study of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage D…
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