Results 1 to 10 of about 4,845,721 (162)
Infantile Sandhoff Disease: Unusual presentation [PDF]
Medical Journal Armed Forces India, 2016 Sandhoff disease is a rare autosomal recessive disorder of sphingolipid metabolism that results from deficiency of the lysosomal enzymes, b-hexosaminidase A and B. The resultant accumulation of GM2ganglioside within both grey matter nuclei and myelin sheaths of the white matter results in eventual severe neuronal dysfunction and neurodegeneration ...
C G, Muralidharan, R P S, Tomar
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Beneficial Effects of Acetyl-DL-Leucine (ADLL) in a Mouse Model of Sandhoff Disease [PDF]
Journal of Clinical Medicine, 2020 Sandhoff disease is a rare neurodegenerative lysosomal storage disease associated with the storage of GM2 ganglioside in late endosomes/lysosomes. Here, we explored the efficacy of acetyl-DL-leucine (ADLL), which has been shown to improve ataxia in ...
Frances M Platt +2 more
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Efficacy of a Bicistronic Vector for Correction of Sandhoff Disease in a Mouse Model [PDF]
Molecular Therapy - Methods and Clinical Development, 2019 GM2 gangliosidoses are a family of severe neurodegenerative disorders resulting from a deficiency in the β-hexosaminidase A enzyme. These disorders include Tay-Sachs disease and Sandhoff disease, caused by mutations in the HEXA gene and HEXB gene ...
Steven J Gray +2 more
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A Case Report of Sandhoff Disease [PDF]
Clinical Neuroradiology, 2010 Sandhoff disease is a rare and severe lysosomal storage disorder representing 7% of GM2 gangliosidoses. Bilateral thalamic involvement has been suggested as a diagnostic marker of Sandhoff disease. A case of an 18-month-old infant admitted for psychomotor regression and drug resistant myoclonic epilepsy is presented.
Saouab, R. +7 more
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Brain endothelial specific gene therapy improves experimental Sandhoff disease [PDF]
Journal of Cerebral Blood Flow and Metabolism, 2020 Alaa Othman, Markus Schwaninger
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Substrate Reduction Therapy for Sandhoff Disease through Inhibition of Glucosylceramide Synthase Activity [PDF]
Molecular Therapy, 2019 Hyejung Park, Drew Tietz
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A New Variant of Sandhoff's Disease [PDF]
Pediatric Research, 1974 Extract: A 28-month-old Negro male with atypical Sandhoff's disease (GM2 gangliosidosis, type 2) is described. Clinical presentation closely resembled Sandhoff's disease. The appendiceal neuron cytoplasm was distended with periodic acid-Schiff (PAS)-positive material.
M W, Spence +3 more
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Microcephaly in infantile Sandhoff's disease [PDF]
BMJ Case Reports, 2017 We evaluated a boy aged 16 months with developmental arrest at the age of 6 months followed by neuroregression and recurrent generalised seizures. Perinatal and family history was not contributory. He was first born to non-consanguineous parents by term, uncomplicated vaginal delivery and weighed 2.8 kg at birth.
Kaushik, Maulik +3 more
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South African Journal of Radiology, 2009 Case based review of the rare autosomal recessive disease. Clinical and Radiological features described in detail.
K Sass, S Wiebe, E Lemire
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A Case Refort of Sandhoff Disease
Korean Journal of Ophthalmology, 2005 Sandhoff disease is a rare autosomal recessive metabolic disease presenting bilateral optic atrophy and a cherry red spot in the macula. This case report presents the characteristics of a patient with Sandhoff disease as assessed by ophthalmic, neuroimaging, and laboratory procedures.
Yie-Min, Yun, Su-Na, Lee
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