[Beta-N-acetyl-hexosaminidase--the enzyme of Tay-Sachs and Sandhoff diseases].
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Amino Acid Sequence↗
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Results for “Sandhoff”
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Basal ganglia changes: a diagnostic clue to Sandhoff disease.
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Basal Ganglia↗
Thalamic hyperdensity: a previously unreported sign of Sandhoff disease.
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Humans↗
Sandhoff's disease (type II GM2 gangliosidosis). Clinical, biochemical and ultrastructural study of a case.
A case of GM2 gangliosidosis is reported: the diagnosis has been made by clinical findings showing macular cherry-red spot and a progressive neurologic symptomatology with epilepsy, by electron microscopic observation in conjunctival fibroblasts of numerous vacuoles ("zebra bodies") and by absence of total hexosaminidase activity in leukocytes. An abnormal increase of urinary oligosaccharides has also been found.
Conjunctiva↗
[Genetic deficiencies of beta-N-acetylhexosaminidase A and B: Tay-Sachs and Sandhoff diseases (GM2-gangliosidosis)].
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DNA↗
[Estimation of heterozygote frequency of Sandhoff disease in a high-risk Argentinian population. Predictive assignment of the genotype through statistical analysis].
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Adolescent↗
[Gangliosidosis GM2 type 2 (Sandhoff disease)].
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Chromatography, Thin Layer↗
Prenatal diagnosis of Sandhoff disease (GM2-gangliosidosis type 2).
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Adult↗
GM2-gangliosidosis, Type 2 (Sandhoff disease).
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Female↗
Sandhoff's disease GM2 gangliosidosis: Type-2.
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Female↗
[GM2 gangliosidosis--Tay-Sacks disease and Sandhoff's disease].
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Child↗
[Sandhoff disease: description of a case].
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Fibroblasts↗
[Sandhoff disease or GM2 gangliosidosis, type 2. High frequency of the gene in a native population].
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Acetylglucosaminidase↗
Retinal and cerebellar changes in early fetal Sandhoff disease (GM2-gangliosidosis type 2).
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Adult↗
Splicing mutation causes infantile Sandhoff disease.
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Alternative Splicing↗
[Sandhoff disease (beta-hexosaminidase alpha-chain deficiency)].
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Animals↗
Complementation after fusion of Sandhoff- and Tay-Sachs fibroblasts.
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Cell Fusion↗
Inheritance of the enzyme deficiency in three neurolipidoses: variant 0 of Tay-Sachs disease (Sandhoff's disease), classic Tay-Sachs disease, and metachromatic leukodystrophy. Identification of the heterozygous carriers.
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Acid Phosphatase↗