نتایج جستجو برای: گانگلیوزیدوز gm2

تعداد نتایج: 703  

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2013
Konrad Sandhoff Klaus Harzer

Gangliosides are the main glycolipids of neuronal plasma membranes. Their surface patterns are generated by coordinated processes, involving biosynthetic pathways of the secretory compartments, catabolic steps of the endolysosomal system, and intracellular trafficking. Inherited defects in ganglioside biosynthesis causing fatal neurodegenerative diseases have been described so far almost exclus...

2007
K. Yu

Cell surface gangliosides show altered patterns of expression as a consequence of malignant transformation and have therefore been of interest as potential targets for immunotherapy, including vaccine construction. One obstacle has been that some of the gangliosides that are overexpressed in human cancers are poorly immunogenic in humans. A case in point is 13o3, a prominent ganglioside of huma...

Journal: :Veterinary pathology 2011
B F Porter B C Lewis J F Edwards J Alroy B J Zeng P A Torres K N Bretzlaff E H Kolodny

The G(M2) gangliosidoses are a group of lysosomal storage diseases caused by defects in the genes coding for the enzyme hexosaminidase or the G(M2) activator protein. Four Jacob sheep from the same farm were examined over a 3-year period for a progressive neurologic disease. Two lambs were 6-month-old intact males and 2 were 8-month-old females. Clinical findings included ataxia in all 4 limbs,...

Journal: :Brazilian Journal of Medical and Biological Research 2004

Journal: :Journal of neurology, neurosurgery, and psychiatry 1991
D Barnes V P Misra E P Young P K Thomas A E Harding

A 42 year old man presented with a slowly progressive gait disturbance, generalised weakness, dysarthria, clumsiness and tremor of his hands, and involuntary jerks. Hexosaminidase A activity in plasma, leucocytes and fibroblasts was considerably reduced, establishing the diagnosis of GM2 gangliosidosis. Clinical examination showed two previously unreported features, a clinically evident sensory...

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