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Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.
Redonnet-Vernhet I, Mahuran DJ, Salvayre R, Dubas F, Levade T. Redonnet-Vernhet I, et al. Among authors: salvayre r. Biochim Biophys Acta. 1996 Nov 15;1317(2):127-33. doi: 10.1016/s0925-4439(96)00044-0. Biochim Biophys Acta. 1996. PMID: 8950198 Free article.
Ultraviolet-treated lipoproteins as a model system for the study of the biological effects of lipid peroxides on cultured cells. II. Uptake and cytotoxicity of ultraviolet-treated LDL on lymphoid cell lines.
Negre-Salvayre A, Lopez M, Levade T, Pieraggi MT, Dousset N, Douste-Blazy L, Salvayre R. Negre-Salvayre A, et al. Among authors: salvayre r. Biochim Biophys Acta. 1990 Aug 6;1045(3):224-32. doi: 10.1016/0005-2760(90)90124-g. Biochim Biophys Acta. 1990. PMID: 2386794
Adult Sandhoff disease presenting with chronic diarrhoea.
Gomez-Brouchet A, Cintas P, Lagier E, Voisin T, Delisle MB, Fabre N, Gérand G, Salvayre R, Levade T. Gomez-Brouchet A, et al. Among authors: salvayre r. J Inherit Metab Dis. 1999 Apr;22(2):187-8. doi: 10.1023/a:1005414423295. J Inherit Metab Dis. 1999. PMID: 10234615 No abstract available.
286 results