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glycolipid/atròfia
L'enllaç es desa al porta-retalls
6 resultats
Ambroxol as a Novel Disease Modifying Treatment for Lewy Body Dementia
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The increasing prevalence of dementia is a serious threat to our medical system and our society. About 500,000 Canadians are affected with dementia, and this number will rise to more than 1 million in the next 20 years. Dementia already costs our economy 15 billion dollars per year. While much of
Biomarkers in Polyradiculoneuropathies
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Background: Inflammatory demyelinating polyradiculoneuropathies are rare disabling autoimmune diseases affecting the peripheral nervous system. These neuropathies can be acute, when signs and symptoms raise in less than 1 month (Guillain-Barré syndrome, GBS), or chronic, when deteriorations continue
Biomarker for Gangliosidosis: BioGM1/BioGM2 (BioGM1/GM2)
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Gangliosidosis:
Gangliosides are complex compunds consisting of a glycosphingolipid and a sialic acid and are located at the cell surface where they are responsible for detecting extracellular molecules. Gangliosides are mainly located in the nervous system.
If gangliosides accumulate pathologically
The Natural History of Metachromatic Leukodystrophy
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Metachromatic leukodystrophy (MLD), an autosomal recessively inherited lysosomal storage disorder, causes a deficiency of arylsulfatase A. This results in accumulation of sulfated glycolipids (sulphatide) within lysosomes of myelin forming cells in the central and peripheral nervous system and to a
OGT 918-006: A Phase I/II Randomized, Controlled Study of OGT 918 in Patients With Neuronopathic Gaucher Disease
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Gaucher disease is an inherited functional deficiency of glucocerebrosidase (beta-glucosidase) which leads to glycolipid accumulation in various tissues. OGT 918 is a reversible inhibitor of glucosylceramide synthase, a key enzyme in the synthesis of glycolipids, and has shown beneficial effects in
Gene Therapy for Gaucher's and Fabry Disease Using Viruses and Blood-Forming Cells
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This protocol was developed in order to obtain bone marrow stem cells for ex vivo transduction with retroviruses containing the human glucocerebrosidase gene. We continue to enter a small number of patients to this protocol each year. Studies with the bone marrow hematopoietic progenitor cells have
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