Results 161 to 170 of about 6,625 (209)
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Acta Pathologica Japonica, 1981
An autopsy case of Sandhoff disease in a 2‐year‐old boy is reported. Diagnosis was established by enzyme assay, which demonstrated total deficiency of hexosaminidase in the serum. Histochemical examination, using hematoxylin‐eosin (H & E) and Luxol fast blue (LFB) stain, showed accumulation of LFB‐positive material not only in cells of the cerebrum,
M, Tatematsu +5 more
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An autopsy case of Sandhoff disease in a 2‐year‐old boy is reported. Diagnosis was established by enzyme assay, which demonstrated total deficiency of hexosaminidase in the serum. Histochemical examination, using hematoxylin‐eosin (H & E) and Luxol fast blue (LFB) stain, showed accumulation of LFB‐positive material not only in cells of the cerebrum,
M, Tatematsu +5 more
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The pathology of Sandhoff's disease
The Journal of Pathology, 1977We have presented the morbid anatomy of a case of Sandhoff's disease and have attempted to outline morphologic differences which distinguish this entity from other GM2 gangliosidoses. Yet, it may be well to maintain a sceptical eye. The anatomic differences among Tay-Sachs disease and its variants are more quantitative than qualitative and are ...
M G, Hadfield, P, Mamunes, R B, David
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Sandhoff disease in the elderly: a case study
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2021Sandhoff disease is an infrequent, genetically caused disorder with a recessive autosomal inheritance pattern. It belongs to the gangliosidosis GM2 group and is produced by mutations in gen HEXB leading to reduction in enzymatic activity of enzymes β-hexosaminidase A and B. Adult-onset GM2 gangliosidosis is rare.
Leidy García Morales +3 more
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On the molecular basis of Sandhoff's disease
Humangenetik, 1973The results of Hooghwinkel et al. (1972) concerning the existence of a third human N-acetylhexosaminidase, designated C, are confirmed. This hexosaminidase exhibits low activity and has therefore generally been overlooked until now. We suggest that the hexosaminidase A represents a heteromer consisting of B- and C-subunits. According to this assumption
H H, Ropers, U, Schwantes
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MRI in a case of Sandhoff's disease
Neuroradiology, 1996An 18-month-old girl was examined by MRI for progressive psychomotor retardation. T2-weighted images demonstrated abnormal high signal in the putamina and low signal in the thalamus (due probably to calcification). Although the cerebral cortex was markedly atrophic, there were signs of brain enlargement because of swelling of the extensively diseased ...
K, Hittmair +4 more
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Sandhoff disease in the Turkish population
Brain and Development, 1997Eighteen cases affected by Sandhoff disease were investigated by an enzymatic study of serum and leukocytes during the period 1988-1996, the clinical expression and enzymatic study were reported and discussed. An indirect minimum disease incidence was calculated in the Turkish population.
H A, Ozkara, M, Topçu, Y, Renda
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An Autopsy Case of Sandhoff–s Disease
Beiträge zur Pathologie, 1974Summary An autopsy case of Sandhoff’s disease is reported. Although diagnosis of Tay-Sachs disease was made first because of the cherry red spot on the macula and a typical clinical course, enzyme assay demonstrated a total deficiency of hexosaminidase in the serum and diagnosis of Sandhoff’s disease was established.
A, Takahashi, K, Saito, Y, Koizumi
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Pre-embryonic diagnosis for Sandhoff disease
Reproductive BioMedicine Online, 2006Embryos found to be abnormal during preimplantation genetic diagnosis (PGD) are discarded or analysed to confirm the diagnosis. To overcome this limitation, which is unacceptable in some communities and ethnic groups, pre-embryonic genetic diagnosis has been introduced, involving sequential first and second polar body analysis followed by transfer of ...
Anver, Kuliev +5 more
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Miglustat therapy in juvenile Sandhoff disease
Journal of Inherited Metabolic Disease, 2009SummaryGM2‐gangliosidosis is a rare and heterogeneous inherited metabolic disorder caused by autosomal recessive mutations in genes encoding the lysosomal enzyme β‐hexosaminidase, resulting in the accumulation of ganglioside GM2 in various tissues, particularly the central nervous system.
C M E, Tallaksen, J E, Berg
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Infantile Sandhoff's Disease With Peripheral Neuropathy
Pediatric Neurology, 2010Sandhoff's disease is a rare autosomal-recessive disorder of sphingolipid metabolism that results from a deficiency of lysosomal enzyme beta-hexosaminidase A and B. The resultant accumulation of GM2 gangliosides within both grey matter and the myelin sheath of white matter results in essential, severe neurodegeneration.
Anuj, Jain, Ashok, Kohli, Deepak, Sachan
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