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Mucopolysaccharidosis type VII
(phenotype)
Summary
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Genetic Markers
Most Correlated Genes
Most Correlated SNPs
No genes found
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Pathway Enrichment
Most Correlated Biogroups
CHEN_METABOLIC_SYNDROM_NETWORK
vesicle
vacuole
lysosome
small molecule binding
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Curated Studies
Most Correlated Studies
Mouse Phenotypes - Autosomal recessive hereditary disorder
Vertebral epiphyseal tissues from dogs with mucopolysaccharidosis type VII
Six regions of the brain from mucopolysaccharidosis type VII GUSB-mutant mice
Normal and Mucopolysaccharidosis VII ascending aorta gene expression
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Literature
Most Relevant Literature
Mucopolysaccharidosis type VII (Sly syndrome) - What do we know?
Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VI…
Prenatal diagnosis of mucopolysaccharidosis type VII facilitating treatment in neonatal period.
Self-complementary AAV vector therapy for treating corneal cloudiness of mucopolysaccharidosis type …
A de novo homozygous missense mutation of the GUSB gene leads to mucopolysaccharidosis type VII iden…
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Clinical Trials
Most Relevant Clinical Trials
Mucopolysaccharidosis VII Disease Monitoring Program
Biomarker for Sly Disease (MPS VII) (BioSly)
Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skelet…
A Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects…
Respiratory Cathepsins, Proteases Inhibitors and Glycosaminoglycans (GAG) in Mucopolysaccharidosis
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