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Sandhoff disease
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
HEXB
HEXA
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
Beta-hexosaminidase
Beta-hexosaminidase, eukaryotic type, N-terminal
Glycoside hydrolase family 20, catalytic domain
Beta-hexosaminidase-like, domain 2
REACTOME_HYALURONAN_UPTAKE_AND_DEGRADATION
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Curated Studies
Most Correlated Studies
Mouse Phenotypes - Metabolic disease
OMIM - Congenital disorder
OMIM - Sandhoff disease
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Literature
Most Relevant Literature
Sandhoff disease in the elderly: a case study.
Glial cells and pharmacological targets in Sandhoff disease].
Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering.
Effect of Yuzu (Citrus junos) Seed Limonoids and Spermine on Intestinal Microbiota and Hypothalamic …
Atypical presentation of late-onset Sandhoff disease: a case report.
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Clinical Trials
Most Relevant Clinical Trials
N-Acetyl-L-Leucine for GM2 Gangliosdisosis (Tay-Sachs and Sandhoff Disease)
Pyrimethamine as a Treatment for Late-Onset GM2-gangliosidosis (Tay-Sachs and Sandhoff Disease)
A Dose-escalation and Safety & Efficacy Study of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease
Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD)
Gene Therapy for Tay-Sachs Disease
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