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Published in 2023 at "Journal of inherited metabolic disease"
DOI: 10.1002/jimd.12596
Abstract: Treatment of monogenic disorders has historically relied on symptomatic management with limited ability to target primary molecular deficits. However, recent advances in gene therapy and related technologies aim to correct these underlying deficiencies, raising the…
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Keywords:
disease;
development;
brain;
expression ... See more keywords
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2
Published in 2020 at "Journal of Neonatal Nursing"
DOI: 10.1016/j.jnn.2020.02.001
Abstract: Abstract Tay-Sachs disease (TSD) is a neurodegenerative disease that is caused by mutations in the HEXA gene. These mutation cause low or absent activity of the enzyme beta-hexosaminidase A which leads to GM2 build up…
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Keywords:
tay sachs;
sachs disease;
disease;
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1
Published in 2019 at "Neuroscience"
DOI: 10.1016/j.neuroscience.2019.06.026
Abstract: Tay-Sachs disease (TSD) is a GM2 gangliosidosis lysosomal storage disease caused by a loss of lysosomal hexosaminidase-A (HEXA) activity and characterized by progressive neurodegeneration due to the massive accumulation of GM2 ganglioside in the brain.…
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Keywords:
neurons derived;
tay sachs;
ipscs;
tsd ipscs ... See more keywords
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1
Published in 2018 at "Social Forces"
DOI: 10.1093/sf/sox084
Abstract: T he use of genetic testing to provide information about health risk and ancestry raises significant questions about choice, expert knowledge, and the reification of the social categories of race and disability. Using the case…
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Keywords:
construction;
tay sachs;
sachs disease;
disease ... See more keywords
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1
Published in 2018 at "BMJ Case Reports"
DOI: 10.1136/bcr-2018-225916
Abstract: Lysosomal storage disorders or lipidoses are a wide spectrum of inherited diseases caused by deficiency of a specific lysosomal hydrolase. About 134 mutations have been described so far and this number is gradually increasing with…
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Keywords:
novel mutation;
tay sachs;
sachs disease;
mutation india ... See more keywords
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1
Published in 2017 at "Practical Neurology"
DOI: 10.1136/practneurol-2017-001665
Abstract: We discuss the assessment and differential diagnoses of a young adult Hungarian man with a 1-year history of a progressive and symmetric amyotrophic lateral sclerosis-like syndrome, along with irregular action tremor and stimulus-sensitive myoclonus of…
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Keywords:
late onset;
tay sachs;
sachs disease;
onset tay ... See more keywords
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3
Published in 2023 at "PLOS ONE"
DOI: 10.1371/journal.pone.0280650
Abstract: Tay-Sachs disease is a lethal lysosomal storage disorder caused by mutations in the HexA gene encoding the α subunit of the lysosomal β-hexosaminidase enzyme (HEXA). Abnormal GM2 ganglioside accumulation causes progressive deterioration in the central…
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Keywords:
sachs disease;
tay sachs;
brain;
model ... See more keywords
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0
Published in 2023 at "Journal of pediatric ophthalmology and strabismus"
DOI: 10.3928/01913913-20230123-01
Abstract: PURPOSE To report optical coherence tomography (OCT) of cherry-red spots from Tay-Sachs and Niemann-Pick disease. METHODS Consecutive patients with Tay-Sachs and Niemann-Pick disease evaluated by the pediatric transplant and cellular therapy team, for whom a…
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Keywords:
gcl;
disease;
optical coherence;
cherry red ... See more keywords