نتایج جستجو برای: sachs disease
تعداد نتایج: 1492092 فیلتر نتایج به سال:
how to cite this article: karimzadeh p, jafari n, nejad biglari h, jabbeh dari s, ahmad abadi f, alaee mr, nemati h, saket s, tonekaboni sh, taghdiri mm, ghofrani m. gm2-gangliosidosis (sandhoff and tay sachs disease): diagnosis and neuroimaging findings (an iranian pediatric case series) iran j child neurol. 2014 summer;8(3): 55-60. abstract objective gm2-gangliosidosis disease is a rare aut...
background: tay-sachs disease (tsd), or gm2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase a (hexa), resulting in lysosomal accumulation of gm2 ganglioside. the aim of this study was to identify the tsd-causing mutations in an iranian population. methods: in this study, we examined 31 patients for tsd-causing mu...
CONTEXT Tay-Sachs disease is an autosomal recessive disease characterized by progressive neurologic degeneration, fatal in early childhood. In the Ashkenazi Jewish population the disease incidence is about 1 in every 3,500 newborns and the carrier frequency is 1 in every 29 individuals. Carrier screening programs for Tay-Sachs disease have reduced disease incidence by 90% in high-risk populatio...
Tay-Sachs disease is a severe, inherited disease of the nervous system caused by accumulation of the brain lipid GM2 ganglioside. Mouse models of Tay-Sachs disease have revealed a metabolic bypass of the genetic defect based on the more potent activity of the enzyme sialidase towards GM2. To determine whether increasing the level of sialidase would produce a similar effect in human Tay-Sachs ce...
Bernard Sachs studied nervous system disorders in children in the United States during the nineteenth and twentieth centuries. In the late 1880s, Sachs described the fatal genetic neurological disorder called amaurotic family idiocy, later renamed Tay-Sachs disease. The disorder degrades motor skills as well as mental abilities in affected individuals. The expected lifespan of a child with Tay-...
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...
Tay-Sachs disease is an autosomal recessive disorder of sphingolipid metabolism, caused by enzyme hexosaminidase A deficiency that leads to an accumulation of GM2 in neurocytes which results in progressive loss of neurological function. The accumulation of lipid in retinal ganglion cells that leads to a chalk-white appearance of the fundus called 'cherry red spot' is the hallmark of Tay-Sachs d...
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