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Rapid Identification of New Biomarkers for the Classification of GM1 Type 2 Gangliosidosis Using an Unbiased 1H NMR-Linked Metabolomics Strategy.
Percival BC, Latour YL, Tifft CJ, Grootveld M. Percival BC, et al. Cells. 2021 Mar 5;10(3):572. doi: 10.3390/cells10030572. Cells. 2021. PMID: 33807817 Free PMC article.
Biomarkers currently available for the diagnosis, prognosis, and therapeutic monitoring of GM1 gangliosidosis type 2 (GM1T2) disease are mainly limited to those discovered in targeted proteomic-based studies. ...
Biomarkers currently available for the diagnosis, prognosis, and therapeutic monitoring of GM1 gangliosidosis type 2 …
GM1 gangliosidosis type 2 in two siblings.
Gascon GG, Ozand PT, Erwin RE. Gascon GG, et al. J Child Neurol. 1992 Apr;7 Suppl:S41-50. doi: 10.1177/08830738920070010711. J Child Neurol. 1992. PMID: 1588015
In the absence of macular or retinal degeneration, organomegaly, and somatic-facial features suggesting mucopolysaccharidosis, the presence of hyperacusis together with sea-blue histiocytes in bone marrow biopsies and deficient beta-galactosidase activity but normal glucosidase, …
In the absence of macular or retinal degeneration, organomegaly, and somatic-facial features suggesting mucopolysaccharidosis, the presence …
Quantitation of the enzymically deficient cross reacting material in GM1 gangliosidoses.
Ben-Yoseph Y, Burton BK, Nadler HL. Ben-Yoseph Y, et al. Am J Hum Genet. 1977 Nov;29(6):575-80. Am J Hum Genet. 1977. PMID: 412418 Free PMC article.
Normal quantities of GM1 beta-galactosidase cross reacting material (CRM) (0.31-0.47 microgram/mg protein) were detected by a sensitive radial immunodiffusion assay in skin fibroblasts from patients with GM1 gangliosidosis type 1 and adult variants, whereas elevated levels were f …
Normal quantities of GM1 beta-galactosidase cross reacting material (CRM) (0.31-0.47 microgram/mg protein) were detected by a sensitive radi …