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type 1 gm1 gangliosidosis
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
GLB1
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
Beta-galactosidase jelly roll domain
Glycoside hydrolase, family 35, conserved site
Glycoside hydrolase, family 35
Beta-galactosidase 1-like
Glycoside hydrolase 35, catalytic domain
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Most Correlated Studies
OMIM - Congenital disorder
OMIM - Metabolic disease
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Literature
Most Relevant Literature
The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis.
Extensive irregular Mongolian blue spots as a clue for GM1 gangliosidosis type 1.
Neuroimaging findings in infantile GM1 gangliosidosis.
Four novel mutations in the β-galactosidase gene identified in infantile type of GM1 gangliosidosis.
Vacuolated lymphocytes and abnormal eosinophils in GM1 gangliosidosis, type 1.
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Clinical Trials
Most Relevant Clinical Trials
A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosida…
Study of Safety, Tolerability and Efficacy of PBGM01 in Pediatric Subjects With GM1 Gangliosidosis
Natural History Study of Infantile and Juvenile GM1 Gangliosidosis (GM1) Patients
A Safety and Efficacy Study of LYS-GM101 Gene Therapy in Patients With GM1 Gangliosidosis
GM1 and GM2 Gangliosidosis PROspective Neurological Disease TrajectOry Study (PRONTO)
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