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Quoted phrase not found in phrase index: "Tay-Sachs disease, B variant, adult form"
Page 1
Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases.
Lyn N, Pulikottil-Jacob R, Rochmann C, Krupnick R, Gwaltney C, Stephens N, Kissell J, Cox GF, Fischer T, Hamed A. Lyn N, et al. Orphanet J Rare Dis. 2020 Apr 15;15(1):92. doi: 10.1186/s13023-020-01354-3. Orphanet J Rare Dis. 2020. PMID: 32295606 Free PMC article.
A minority of patients have a late-onset form of disease that presents from late-childhood to adulthood and has a slowly progressive course with prolonged survival. Little research has been published documenting patient experiences with late-onset Tay-Sach …
A minority of patients have a late-onset form of disease that presents from late-childhood to adulthood and has a slowly progr …
Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.
Neudorfer O, Pastores GM, Zeng BJ, Gianutsos J, Zaroff CM, Kolodny EH. Neudorfer O, et al. Genet Med. 2005 Feb;7(2):119-23. doi: 10.1097/01.gim.0000154300.84107.75. Genet Med. 2005. PMID: 15714079
PURPOSE: The purpose of this study was to describe the phenotype (and corresponding genotype) of adult patients with late-onset Tay-Sachs disease, a clinical variant of the GM2-gangliosidoses. ...The pedigree revealed a relative with the "classic" infa …
PURPOSE: The purpose of this study was to describe the phenotype (and corresponding genotype) of adult patients with late-onset Ta …
Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease.
Jahnová H, Poupětová H, Jirečková J, Vlášková H, Košťálová E, Mazanec R, Zumrová A, Mečíř P, Mušová Z, Magner M. Jahnová H, et al. J Neurol. 2019 Aug;266(8):1953-1959. doi: 10.1007/s00415-019-09364-3. Epub 2019 May 10. J Neurol. 2019. PMID: 31076878
BACKGROUND: Tay-Sachs disease (TSD) is an inherited neurodegenerative disorder caused by a lysosomal beta-hexosaminidase A deficiency due to mutations in the HEXA gene. The late-onset form of disease (LOTS) is considered rare, and only a limited …
BACKGROUND: Tay-Sachs disease (TSD) is an inherited neurodegenerative disorder caused by a lysosomal beta-hexosaminidas …
GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
Gort L, de Olano N, Macías-Vidal J, Coll MA; Spanish GM2 Working Group. Gort L, et al. Gene. 2012 Sep 10;506(1):25-30. doi: 10.1016/j.gene.2012.06.080. Epub 2012 Jul 10. Gene. 2012. PMID: 22789865
The HEXA and HEXB genes encode the alpha-subunit and the beta-subunit, respectively. Mutations in these genes are causative of Tay-Sachs disease (HEXA) and Sandhoff disease (HEXB). We analyzed the complete HEXA gene in 34 Spanish patients with Tay …
The HEXA and HEXB genes encode the alpha-subunit and the beta-subunit, respectively. Mutations in these genes are causative of Tay- …
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 …
Postnatal and prenatal diagnosis of lysosomal storage diseases in the former Soviet Union.
Krasnopolskaya XD, Mirenburg TV, Akhunov VS, Voskoboeva EY. Krasnopolskaya XD, et al. Wien Klin Wochenschr. 1997 Feb 14;109(3):74-80. Wien Klin Wochenschr. 1997. PMID: 9060146
Besides classical forms of LSD numerous atypical forms were discovered. They included juvenile and adult forms of some sphingolipidoses manifesting as progressive dystonia, spinocerebellar degeneration and hebephrenic schizophrenia, as well as an atypical form of mu …
Besides classical forms of LSD numerous atypical forms were discovered. They included juvenile and adult forms of some sphingolipidos …