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  2. Tay–Sachs disease - Wikipedia

    en.wikipedia.org/wiki/TaySachs_disease

    TaySachs disease is inherited in an autosomal recessive pattern. The HEXA gene is located on the long (q) arm of human chromosome 15, between positions 23 and 24. TaySachs disease is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% risk of giving birth to an affected child with each ...

  3. GM2 gangliosidoses - Wikipedia

    en.wikipedia.org/wiki/GM2_gangliosidoses

    A multinational clinical trial investigating N-Acetyl-L-Leucine for the treatment of GM2 Gangliosidosis (Tay-Sachs and Sandhoff) began in 2019 [14] Recruitment is ongoing. IntraBio is also conducting parallel clinical trials with N-Acetyl-L-Leucine for the treatment of Niemann-Pick disease type C [15] and Ataxia-Telangiectasia. [16]

  4. Substrate reduction therapy - Wikipedia

    en.wikipedia.org/wiki/Substrate_reduction_therapy

    TaySachs disease. The disease occurs when harmful quantities of a fatty acid derivative called a ganglioside accumulate in the nerve cells of the brain . Gangliosides are lipids , components of cellular membranes, and the ganglioside GM2, implicated in TaySachs disease, is especially common in the nervous tissue of the brain .

  5. Lipid storage disorder - Wikipedia

    en.wikipedia.org/wiki/Lipid_storage_disorder

    Many lipid storage disorders can be classified into the subgroup of sphingolipidoses, as they relate to sphingolipid metabolism. Members of this group include Niemann-Pick disease, Fabry disease, Krabbe disease, Gaucher disease, TaySachs disease, metachromatic leukodystrophy, multiple sulfatase deficiency, and Farber disease.

  6. Prevention of Tay–Sachs disease - Wikipedia

    en.wikipedia.org/wiki/Prevention_of_TaySachs...

    Out of 604 monitored pregnancies where there was a prenatal diagnosis of TaySachs disease, 583 pregnancies were terminated. Of the 21 pregnancies that were not terminated, 20 of the infants went on to develop classic infantile TaySachs disease, and the 21st case progressed later to adult-onset TaySachs disease.

  7. Spinocerebellar ataxia - Wikipedia

    en.wikipedia.org/wiki/Spinocerebellar_ataxia

    IntraBio is also conducting parallel clinical trials with N-Acetyl-L-Leucine for the treatment of Niemann-Pick disease type C [43] and GM2 gangliosidosis (Tay-Sachs and Sandhoff disease). [44] Future opportunities to develop N-Acetyl-Leucine include Lewy body dementia , [ 45 ] amyotrophic lateral sclerosis , restless leg syndrome , multiple ...

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  9. Lysosomal storage disease - Wikipedia

    en.wikipedia.org/wiki/Lysosomal_storage_disease

    TaySachs disease was the first of these disorders to be described, in 1881, followed by Gaucher disease in 1882. In the late 1950s and early 1960s, de Duve and colleagues, using cell fractionation techniques, cytological studies, and biochemical analyses, identified and characterized the lysosome as a cellular organelle responsible for ...