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gangliosidoses gm2/tremolor
L'enllaç es desa al porta-retalls
9 resultats
Pendular nystagmus, palatal tremor and progressive ataxia in GM2-gangliosidosis.
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GM2 gangliosidosis variant 0 (Sandhoff-like disease) in a family of toy poodles.
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BACKGROUND
GM2 gangliosidosis variant 0 (human Sandhoff disease) is a lysosomal storage disorder caused by deficiencies of acid β-hexosaminidase (Hex) A and Hex B because of an abnormality of the β-subunit, a common component in these enzyme molecules, which is coded by the HEXB gene.
OBJECTIVE
To
Gene transfer corrects acute GM2 gangliosidosis--potential therapeutic contribution of perivascular enzyme flow.
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The GM2 gangliosidoses are fatal lysosomal storage diseases principally affecting the brain. Absence of β-hexosaminidase A and B activities in the Sandhoff mouse causes neurological dysfunction and recapitulates the acute Tay-Sachs (TSD) and Sandhoff diseases (SD) in infants. Intracranial
[Clinical features of GM1 and GM2 gangliosidosis in own observation].
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BACKGROUND
Lysosomal enzyme defects leeds to intracellular storage and cause damage in many organs, almost always affects central nervous system. AIM. The aim of the study was to reveal the location and clinical characteristics of gangliosidosis in pediatric neurology.
METHODS
Gangliosidoses GM1 and
GM2-gangliosidosis variant 0 (Sandhoff-like disease) in a family of Japanese domestic cats.
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A five-month-old, female Japanese domestic shorthair cat with proportionate dwarfism developed neurological disorders, including ataxia, decreased postural responses and generalised body and head tremors, at between two and five months of age. Leucocytosis due to lymphocytosis with abnormal
[Juvenile-onset dystonia with bilateral atrophy of the basal ganglia on MRI].
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A 40-year-old man was hospitalized for tremor of the right upper limb, gait disturbance and dysarthria. His course of development had been normal until the age of 14, when difficulties in speaking and walking, and tremor of the upper limb became evident following an episode of fever. His symptoms
Characterization of inducible models of Tay-Sachs and related disease.
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Tay-Sachs and Sandhoff diseases are lethal inborn errors of acid β-N-acetylhexosaminidase activity, characterized by lysosomal storage of GM2 ganglioside and related glycoconjugates in the nervous system. The molecular events that lead to irreversible neuronal injury accompanied by gliosis are
GM2 ganglioside accumulation causes neuroinflammation and behavioral alterations in a mouse model of early onset Tay-Sachs disease
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Background: Tay-Sachs disease (TSD), a type of GM2-gangliosidosis, is a progressive neurodegenerative lysosomal storage disorder caused by mutations in the α subunit of the lysosomal β-hexosaminidase enzyme. This disease is characterized
Two-Year Follow-Up Magnetic Resonance Imaging and Spectroscopy Findings and Cerebrospinal Fluid Analysis of a Dog with Sandhoff's Disease.
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A 13-month-old female Toy Poodle was presented for progressive ataxia and intention tremors of head movement. The diagnosis of Sandhoff's disease (GM2 gangliosidosis) was confirmed by deficient β-N-acetylhexosaminidase A and B activity in circulating leukocytes and identification of the homozygous
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