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Quoted phrase not found in phrase index: "Tay-Sachs disease, B variant, adult form"
Page 1
Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests.
Triggs-Raine BL, Feigenbaum AS, Natowicz M, Skomorowski MA, Schuster SM, Clarke JT, Mahuran DJ, Kolodny EH, Gravel RA. Triggs-Raine BL, et al. N Engl J Med. 1990 Jul 5;323(1):6-12. doi: 10.1056/NEJM199007053230102. N Engl J Med. 1990. PMID: 2355960 Free article.
BACKGROUND AND METHODS: The prevention of Tay-Sachs disease (GM2 gangliosidosis, type 1) depends on the identification of carriers of the gene for this autosomal recessive disorder. We compared the enzyme-based test widely used in screening for Tay- …
BACKGROUND AND METHODS: The prevention of Tay-Sachs disease (GM2 gangliosidosis, type 1) depends on the identification …
Treatment of GM2 Gangliosidosis in Adult Sandhoff Mice Using an Intravenous Self-Complementary Hexosaminidase Vector.
Osmon KJ, Thompson P, Woodley E, Karumuthil-Melethil S, Heindel C, Keimel JG, Kaemmerer WF, Gray SJ, Walia JS. Osmon KJ, et al. Curr Gene Ther. 2022;22(3):262-276. doi: 10.2174/1566523221666210916153051. Curr Gene Ther. 2022. PMID: 34530708
BACKGROUND: GM2 gangliosidosis is a neurodegenerative, lysosomal storage disease caused by the deficiency of beta-hexosaminidase A enzyme (Hex A), an alpha/beta-subunit heterodimer. ...We hypothesized that when examining the dosage comparison for scAAV9/HEXM in adult …
BACKGROUND: GM2 gangliosidosis is a neurodegenerative, lysosomal storage disease caused by the deficiency of beta-hexosaminidase A en …
beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease.
Brown CA, Mahuran DJ. Brown CA, et al. Am J Hum Genet. 1993 Aug;53(2):497-508. Am J Hum Genet. 1993. PMID: 8328462 Free PMC article.
Mutations affecting the alpha-subunit of beta-hexosaminidase A (alpha beta) (E.C.3.2.1.52) result in Tay-Sachs disease. Because hexosaminidase A is heterodimeric, analysis of alpha-chain mutations is not straightforward. ...We conclude that, with proper contr …
Mutations affecting the alpha-subunit of beta-hexosaminidase A (alpha beta) (E.C.3.2.1.52) result in Tay-Sachs disease. …
Screening for carriers of Tay-Sachs disease: A community project.
Lowden JA, Zuker S, Wilensky AJ, Skomorowski MA. Lowden JA, et al. Can Med Assoc J. 1974 Aug 3;111(3):229-33. Can Med Assoc J. 1974. PMID: 4854206 Free PMC article.
Heterozygotes for Tay-Sachs disease can be distinguished by measuring the serum hexosaminidase activity and calculating the percentage of the heat-labile (A) form. We tested 7565 Ashkenazi Jews in Metropolitan Toronto and found a carrier frequency of 0 …
Heterozygotes for Tay-Sachs disease can be distinguished by measuring the serum hexosaminidase activity and calculating …
GM2 gangliosidosis variant B1 neuroradiological findings.
Grosso S, Farnetani MA, Berardi R, Margollicci M, Galluzzi P, Vivarelli R, Morgese G, Ballestri P. Grosso S, et al. J Neurol. 2003 Jan;250(1):17-21. doi: 10.1007/s00415-003-0925-3. J Neurol. 2003. PMID: 12527987
No basal ganglia or thalamic anomalies were observed. Because in the adult forms of both Tay-Sachs and Sandhoff diseases a progressive cerebellar atrophy represents the only abnormality detectable, it appears that an MRI pattern peculiar to GM2 ganglio …
No basal ganglia or thalamic anomalies were observed. Because in the adult forms of both Tay-Sachs and Sandhoff …
Rapid identification of HEXA mutations in Tay-Sachs patients.
Giraud C, Dussau J, Azouguene E, Feillet F, Puech JP, Caillaud C. Giraud C, et al. Biochem Biophys Res Commun. 2010 Feb 19;392(4):599-602. doi: 10.1016/j.bbrc.2010.01.088. Epub 2010 Jan 25. Biochem Biophys Res Commun. 2010. PMID: 20100466
Tay-Sachs disease (TSD) is a recessively inherited neurodegenerative disorder due to mutations in the HEXA gene resulting in a beta-hexosaminidase A (Hex A) deficiency. ...The time-saving procedure reported here could be useful for the characterization of …
Tay-Sachs disease (TSD) is a recessively inherited neurodegenerative disorder due to mutations in the HEXA gene resulti …
Neuropathology of chronic GM2 gangliosidosis due to hexosaminidase A deficiency.
Kornfeld M. Kornfeld M. Clin Neuropathol. 2008 Sep-Oct;27(5):302-8. doi: 10.5414/npp27302. Clin Neuropathol. 2008. PMID: 18808061
Autopsy studies of late-onset GM2 gangliosidosis are sparse and only one adult case is on record. The case of partial Hex A deficiency presented here started in childhood as spinal muscular atrophy which progressed slowly over 4 decades. ...Electron microscopy showed accum …
Autopsy studies of late-onset GM2 gangliosidosis are sparse and only one adult case is on record. The case of partial Hex A deficienc …