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Quoted phrase not found in phrase index: "Tay-Sachs disease, variant AB"
Page 1
Plasma G(M2) ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis.
Blondel A, Kraoua I, Marcelino C, Khrouf W, Schlemmer D, Ganne B, Caillaud C, Fernández-Eulate G, Turki IBY, Dauriat B, Bonnefont-Rousselot D, Nadjar Y, Lamari F. Blondel A, et al. Mol Genet Metab. 2023 Feb;138(2):106983. doi: 10.1016/j.ymgme.2022.106983. Epub 2022 Dec 26. Mol Genet Metab. 2023. PMID: 36709536
Gangliosides were analysed in plasma from 19 patients with GM2-Gangliosidosis: Tay-Sachs (n = 9), Sandhoff (n = 9) and AB variant of GM2-Gangliosidosis (n = 1) and compared to 20 age-matched controls. ...G(M2)34:1 and G(M2)34:1/G(M3)34:1 were higher in …
Gangliosides were analysed in plasma from 19 patients with GM2-Gangliosidosis: Tay-Sachs (n = 9), Sandhoff (n = 9) and AB …
Biochemistry and genetics of gangliosidoses.
Sandhoff K, Christomanou H. Sandhoff K, et al. Hum Genet. 1979;50(2):107-43. doi: 10.1007/BF00390234. Hum Genet. 1979. PMID: 116955 Review.
Contrary to general expectation, only a poor correlation is observed between the severity of the disease and residual activity of the defective enzyme when measured with synthetic or natural substrates in the presence of detergents. ...The significance of activator protein …
Contrary to general expectation, only a poor correlation is observed between the severity of the disease and residual activity of the …
Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in humans.
Sobek AK, Evers C, Dekomien G. Sobek AK, et al. Mol Cell Probes. 2013 Feb;27(1):32-7. doi: 10.1016/j.mcp.2012.08.007. Epub 2012 Aug 27. Mol Cell Probes. 2013. PMID: 23010210
The MLPA assays complement routine diagnostics for M. Sandhoff (OMIM: 268800), M. Tay-Sachs variant AB (OMIM: 272750) and Schimke immuno-osseous dysplasia (OMIM: 242900)....
The MLPA assays complement routine diagnostics for M. Sandhoff (OMIM: 268800), M. Tay-Sachs variant AB (OMIM: 27 …
GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.
Sheth J, Datar C, Mistri M, Bhavsar R, Sheth F, Shah K. Sheth J, et al. BMC Pediatr. 2016 Jul 11;16:88. doi: 10.1186/s12887-016-0626-6. BMC Pediatr. 2016. PMID: 27402091 Free PMC article. Review.
MRI of brain revealed putaminal hyperintensity and thalamic hypointensity with some unmyelinated white matter in T2/T1 weighted images. Initially he was suspected having Tay-Sachs disease and finally diagnosed as GM2 gangliosidosis, AB variant d …
MRI of brain revealed putaminal hyperintensity and thalamic hypointensity with some unmyelinated white matter in T2/T1 weighted images. Init …
Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.
Abtahi R, Karimzadeh P, Rezayi A, Salehpour S, Akbarzadeh D, Tonekaboni SH, Emameh RZ, Houshmand M. Abtahi R, et al. J Mol Neurosci. 2022 Mar;72(3):555-564. doi: 10.1007/s12031-021-01907-6. Epub 2021 Sep 23. J Mol Neurosci. 2022. PMID: 34554397
The current study aimed to provide additional knowledge on the genotype of sphingolipidoses disease among Iranian patients affected by the disease. In this research, we studied 68 unrelated Iranian patients diagnosed with one kind of sphingolipidoses from 2014 to 20 …
The current study aimed to provide additional knowledge on the genotype of sphingolipidoses disease among Iranian patients affected b …
Therapeutic evaluation of GM2 gangliosidoses by ELISA using anti-GM2 ganglioside antibodies.
Tsuji D, Higashine Y, Matsuoka K, Sakuraba H, Itoh K. Tsuji D, et al. Clin Chim Acta. 2007 Mar;378(1-2):38-41. doi: 10.1016/j.cca.2006.10.010. Epub 2006 Oct 24. Clin Chim Acta. 2007. PMID: 17196574
BACKGROUND: GM2 gangliosidoses, including Tay-Sachs disease, Sandhoff disease and the AB variant, comprise deficiencies of beta-hexosaminidase isozymes and GM2 ganglioside activator protein associated with accumulation of GM2 ganglioside …
BACKGROUND: GM2 gangliosidoses, including Tay-Sachs disease, Sandhoff disease and the AB variant, …
The AB-variant of GM2-gangliosidosis. Clinical, biochemical, and pathological studies of two patients.
Goldman JE, Yamanaka T, Rapin I, Adachi M, Suzuki K, Suzuki K. Goldman JE, et al. Acta Neuropathol. 1980;52(3):189-202. doi: 10.1007/BF00705807. Acta Neuropathol. 1980. PMID: 6255724
Clinical, neuropathological, and biochemical studies are reported in two children with the AB-variant of GM2-gangliosidosis. One patient had become symptomatic by 1--1.5 years, initially showing cerebellar signs, and then progressive psychomotor retardation, with hy …
Clinical, neuropathological, and biochemical studies are reported in two children with the AB-variant of GM2-gangliosidosis. O …
Ganglioside loading of cultured fibroblasts: a provocative method for the diagnosis of the GM2 gangliosidoses.
Charrow J, Binns HJ. Charrow J, et al. Clin Chim Acta. 1986 Apr 15;156(1):41-9. doi: 10.1016/0009-8981(86)90177-4. Clin Chim Acta. 1986. PMID: 2938852
Confirmation of deficient beta-hexosaminidase activity in suspected cases of GM2 gangliosidosis may be difficult with available assay systems if the residual activity is high (as in many juvenile cases and genetic compounds). Hexosaminidase activity is normal in the AB- …
Confirmation of deficient beta-hexosaminidase activity in suspected cases of GM2 gangliosidosis may be difficult with available assay system …
GM2-ganglioside metabolism in cultured human skin fibroblasts: unambiguous diagnosis of GM2-gangliosidosis.
Raghavan S, Krusell A, Lyerla TA, Bremer EG, Kolodny EH. Raghavan S, et al. Biochim Biophys Acta. 1985 Apr 25;834(2):238-48. doi: 10.1016/0005-2760(85)90161-4. Biochim Biophys Acta. 1985. PMID: 3995063
In contrast, cells from patients with GM2-gangliosidosis representing Tay-Sachs, Sandhoff and AB variant forms of the disease did not metabolize the ingested labeled GM2-like controls. ...
In contrast, cells from patients with GM2-gangliosidosis representing Tay-Sachs, Sandhoff and AB variant forms o …
GM2-gangliosidosis, AB variant: clinico-pathological study of a case.
de Baecque CM, Suzuki K, Rapin I, Johnson AB, Whethers DL. de Baecque CM, et al. Acta Neuropathol. 1975 Dec 19;33(3):207-26. doi: 10.1007/BF00688395. Acta Neuropathol. 1975. PMID: 174379
The total activities of beta-galactosidase and N-acetyl-beta-hexosaminidase, as well as the proportion of hexosaminidase A and B components in her serum and leukocytes were normal when the assays were carried out with artificial fluorogenic substrate. Diagnosis of GM2-gangliosido …
The total activities of beta-galactosidase and N-acetyl-beta-hexosaminidase, as well as the proportion of hexosaminidase A and B components …
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