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GM1 Gangliosidosis—A Mini-Review [PDF]
Frontiers in Genetics, 2021 GM1 gangliosidosis is a progressive, neurosomatic, lysosomal storage disorder caused by mutations in the GLB1 gene encoding the enzyme β-galactosidase. Absent or reduced β-galactosidase activity leads to the accumulation of β-linked galactose-containing ...
Elena-Raluca Nicoli +8 more
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Frontiers in Chemical Engineering, 2022 GM1 gangliosidosis is a lysosomal storage disorder caused by deficiency of β-galactosidase (βgal) and subsequent accumulation of GM1 ganglioside in lysosomes. One of the pathological aspects of GM1 gangliosidosis, and other storage disorders, is impaired
Bipin Chakravarthy Paruchuri +3 more
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Magnetic resonance findings of the corpus callosum in canine and feline lysosomal storage diseases.
PLoS ONE, 2013 Several reports have described magnetic resonance (MR) findings in canine and feline lysosomal storage diseases such as gangliosidoses and neuronal ceroid lipofuscinosis.
Daisuke Hasegawa +7 more
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Molecular Genetics and Metabolism Reports, 2019 Gangliosidoses, including GM1-gangliosidosis and GM2-gangliosidosis (Tay-Sachs disease and Sandhoff disease), are lysosomal disorders resulting from enzyme deficiencies and accumulation of gangliosides.
Li Ou +3 more
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Multimodal optical imaging and genetic features of AB variant GM2 gangliosidosis: a case report
Frontiers in Pediatrics, 2023 BackgroundAB variant GM2 gangliosidosis is an extremely rare autosomal recessive lysosomal storage disease. Macular cherry-red spots are the most commonly described ocular sign in this disease.
Qin Chen, Fang Lu
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Childhood Degenerative Disorders and Adult Dementia
Pediatric Neurology Briefs, 1991 An approach to the evaluation of dementia in adults related to pediatric metabolic and degenerative diseases is reviewed from the Department of Neurology, University Medical Center, Maywood, IL.
J Gordon Millichap
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GM1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots
Indian Journal of Dermatology, 2011 A 7-month old girl with GM1 gangliosidosis type 1 manifested with diffuse ecchymosis and Mongolian spots. The cutaneous lesions were present at birth before the appearance of the other features of the disease. We postulate that dermal pigmentation may be
Imad Dweikat +4 more
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Frontiers in Veterinary Science, 2021 Positioning head tilt is a neurological sign that has recently been described in dogs with congenital cerebellar malformations. This head tilt is triggered in response to head movement and is believed to be caused by a lack of inhibition of the ...
Shinji Tamura +8 more
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Balkan Medical Journal, 2022 Background: GM1 gangliosidosis is an autosomal recessive lysosomal storage disease caused by biallelic mutations in the GLB1 gene. Neurodegeneration, hypotonia, visceromegaly, macular cherry-red spots, skeletal dysplasia, and coarse and dysmorphic face ...
Halil Tuna Akar +9 more
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Wishbone pattern of iron accumulation: A pathognomonic sign of type III GM1 gangliosidosis
Annals of Movement Disorders, 2019 Type III GM1 gangliosidosis is the adult or chronic variant of a lysosomal storage disorder, which occurs secondary to deficiency of β-galactosidase.
Shweta Prasad +3 more
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