Results 121 to 130 of about 4,845,721 (162)

The pathology of Sandhoff's disease

The Journal of Pathology, 1977
We 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, 2021
Sandhoff 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, Reinaldo Gaspar Mustelier Bécquer, Laura Pérez Joglar, Tatiana Zaldívar Vaillant   +3 more
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On the molecular basis of Sandhoff's disease

Humangenetik, 1973
The 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, 1996
An 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, D, Wimberger, G, Bernert, R, Mallek, E G, Schindler   +4 more
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An Autopsy Case of Sandhoff–s Disease

Beiträge zur Pathologie, 1974
Summary 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, 2006
Embryos 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, Svetlana, Rechitsky, Katya, Laziuk, Oleg, Verlinsky, Ilan, Tur-Kaspa, Yury, Verlinsky   +5 more
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Miglustat therapy in juvenile Sandhoff disease

Journal of Inherited Metabolic Disease, 2009
SummaryGM2‐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, 2010
Sandhoff'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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Sandhoff disease in a golden retriever dog

Journal of Inherited Metabolic Disease, 2002
AbstractA golden retriever dog is described with total hexosaminid ase deficiency and raised GM2‐ganglioside in CSF. The animal represents a model for human Sandhoff disease.
O, Yamato, N, Matsuki, H, Satoh, M, Inaba, K, Ono, M, Yamasaki, Y, Maede   +6 more
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A case of combined Farber and Sandhoff disease

European Journal of Pediatrics, 1989
We describe a patient with the biochemically established combination of Farber and Sandhoff disease. A 6-month-old girl of consanguineous Turkish parents presented with hoarseness, stridor, scattered skin nodules, painful swelling of hand joints and ankles, and cherry-red macular spots.
C, Fusch, R, Huenges, H W, Moser, A C, Sewell, W, Roggendorf, B, Kustermann-Kuhn, A, Poulos, W F, Carey, K, Harzer   +8 more
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