نتایج جستجو برای: sandhoff disease
تعداد نتایج: 1490121 فیلتر نتایج به سال:
In 1881 British ophthalmologist Warren Tay made an unusual observation. He reported a cherry-red spot on the retina of a one-year-old patient, a patient who was also showing signs of progressive degeneration of the central nervous system [4] as manifested in the child?s physical and mental retardation [5]. This cherry-red spot is a characteristic that would eventually come to be associated with...
Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis
andhoff disease (GM2 gangliosidosis) is much less common than Tay-Sachs disease. Both are autosomal recessive lysosomal storage disorders (GM gangliosidoses). But Sandhoff disease is caused by mutations of the gene encoding the beta sub-unit of hexosaminidase, on chromosome 5. In Tay-Sachs disease, the mutation is in the alpha sub-unit on chromosome 15.1 Since both hexosaminidase A and hexosami...
The patient was born at term after an uncomplicated pregnancy, labor, and delivery. The neonatal course was complicated only by mild hyperbilirubinemia, which was treated with phototherapy. When the baby was 6 months old , the mother sought medical attention because the infant was unable to sit unassisted. ACT scan performed at that time was normal. A second evaluation when the baby was 1 year ...
Inherited defects in the degradation of glycosphingolipids (GSLs) cause a group of severe diseases known as GSL storage disorders. There are currently no effective treatments for the majority of these disorders. We have explored a new treatment paradigm, substrate deprivation therapy, by constructing a genetic model in mice. Sandhoff's disease mice, which abnormally accumulate GSLs, were bred w...
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