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Gangliosidosis GM1

Known as: Gangliosidosis G(M1), Beta-Galactosidase-1 Deficiency Disease, Beta-Galactosidosis 
An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal… 
National Institutes of Health

Related topics

Related topics

19 relations
Cortical Congenital HyperostosisFabry DiseaseGanglioside GM1In Blood

Broader (2)

Enzyme DeficiencyGangliosidoses

Narrower (2)

Gangliosidosis, Generalized GM1, Type 1 (disorder)Gangliosidosis, Generalized GM1, Type 3

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2007
2007
Trajectory Generation on Approach and Landing for RLVs Using Motion Primitives and Neighboring Optimal Control
A major objective of next generation reusable launch vehicle (RLV) programs includes significant improvements in vehicle safety… 
2007
2007
Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM1 gangliosidosis
SummaryDiagnosis of GM1 gangliosidosis (OMIM 230500) is usually based on the presence of physical signs of storage such as coarse… 
2004
2004
GM-2 gangliosidosis (Sandhoff's disease): two year follow-up by MRI
Two children with GM-2 gangliosidosis type 0 (Sandhoff's disease) followed up by MRI at 1.5 Tesla for 1.8 years are reported. One… 
Highly Cited
2001
Highly Cited
2001
Galactonojirimycin derivatives restore mutant human β-galactosidase activities expressed in fibroblasts from enzyme-deficient knockout mouse
2001
2001
Retrospective diagnosis of GM1 gangliosidosis by use of a newborn-screening card.
A deficiency of lysosomal β-d-galactosidase (βG; EC 3.2.1.23) is the primary defect in the three clinical forms (infantile… 
Review
1997
Review
1997
β-Galactosidase Gene Mutations in Patients With Slowly Progressive GM1 Gangliosidosis
Three unrelated North American cases with slowly progressive forms of GM1 gangliosidosis were found to have two unique point… 
1997
1997
Infantile generalized GM1 gangliosidosis: High incidence in the Maltese Islands
GM1 gangliosidosis (McKusick 230500) is characterized biochemically by a deficiency of the lysosomal enzyme β -galactosidase (EC… 
Review
1995
Review
1995
[beta-galactosidosis--GM1 gangliosidosis and Morquio B disease].
beta-galactosidosis is a lysosomal storage disorder caused by a deficiency of acid beta-galactosidase, including to autosomal… 
1989
1989
Angiokeratoma corporis diffusum in GM1 gangliosidosis, Type 1
A patient with severe deficiency of β‐galactosidase, who developed skin lesions of angiokeratoma corporis diffusum between the… 
1975
1975
Generalized gangliosidosis type II (Juvenile GM1 gangliosidosis)
Pathological, histochemical and ultrastructural studies on 3 siblings with GM1 gangliosidosis type II are reported. These studies… 
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