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Mucopolysaccharidosis
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Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
GLB1
NAGLU
SGSH
ARSB
HGSNAT
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
REACTOME_GLYCOSAMINOGLYCAN_METABOLISM
REACTOME_METABOLISM_OF_CARBOHYDRATES
carbohydrate derivative catabolic process
REACTOME_HS_GAG_DEGRADATION
REACTOME_HEPARAN_SULFATE_HEPARIN_HS_GAG_METABOLISM
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Curated Studies
Most Correlated Studies
Fibroblast cell lines treated with indomethacin or nimesulide
Normal and Mucopolysaccharidosis VII ascending aorta gene expression
Six regions of the brain from mucopolysaccharidosis type VII GUSB-mutant mice
Mouse Phenotypes - Dysostosis multiplex group
Mouse Phenotypes - Metabolic disease
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Literature
Most Relevant Literature
Clinical investigator perspectives on patient outcomes in children with neuronopathic mucopolysaccha…
Caregiver experiences and observations of intrathecal idursulfase-IT treatment in a phase 2/3 trial …
Child Neurology: Mucopolysaccharidosis IIID: Evidence From Ultrastructural and Genomic Study.
Cognitive and adaptive behaviors associated with disease severity and genotype in patients with muco…
Open-label, single-center, clinical study evaluating the safety, tolerability and clinical effects o…
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Clinical Trials
Most Relevant Clinical Trials
Hematopoietic Stem Cell Transplantation for Mucopolysaccharidosis
Gene Therapy in Patients With Mucopolysaccharidosis Disease
Parental Coping With Challenging Behavior in Mucopolysaccharidosis Type I-III
Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis (MPS) I
Study of rhASB in Patients With Mucopolysaccharidosis VI
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