Salvayre R - Search Results

1

Fabry's disease: heterozygous form of different expression in two monozygous twin sisters.

Marguery MC, Giordano F, Parant M, Samalens G, Levade T, Salvayre R, Maret A, Calvas P, Bourrouillou G, Cantala P, et al. Marguery MC, et al. Among authors: salvayre r. Dermatology. 1993;187(1):9-15. doi: 10.1159/000247189. Dermatology. 1993. PMID: 8324287

2

Different phenotypic expression of Fabry disease in female monozygotic twins.

Levade T, Giordano F, Maret A, Marguery MC, Bazex J, Salvayre R. Levade T, et al. Among authors: salvayre r. J Inherit Metab Dis. 1991;14(1):105-6. doi: 10.1007/BF01804397. J Inherit Metab Dis. 1991. PMID: 1907335 No abstract available.

3

Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.

Redonnet-Vernhet I, Ploos van Amstel JK, Jansen RP, Wevers RA, Salvayre R, Levade T. Redonnet-Vernhet I, et al. Among authors: salvayre r. J Med Genet. 1996 Aug;33(8):682-8. doi: 10.1136/jmg.33.8.682. J Med Genet. 1996. PMID: 8863162 Free PMC article.

4

Evidence for both endogenous and exogenous sources of the sphingomyelin storage in lymphoid cell lines from patients with Niemann-Pick disease types A and B.

Levade T, Salvayre R, Maret A, Douste-Blazy L. Levade T, et al. Among authors: salvayre r. J Inherit Metab Dis. 1988;11(2):151-7. doi: 10.1007/BF01799864. J Inherit Metab Dis. 1988. PMID: 3139926

5

Uptake and degradation of several pyrenesphingomyelins by skin fibroblasts from control subjects and patients with Niemann-Pick disease. Effect of the structure of the fluorescent fatty acyl residue.

Levade T, Gatt S, Salvayre R. Levade T, et al. Among authors: salvayre r. Biochem J. 1991 Apr 1;275 ( Pt 1)(Pt 1):211-7. doi: 10.1042/bj2750211. Biochem J. 1991. PMID: 2018477 Free PMC article.

6

Acid lability of the mutated glucosylceramide-beta-glucosidase in a lymphoid cell line from type 2 Gaucher disease.

Maret A, Salvayre R, Troly M, Douste-Blazy L. Maret A, et al. Among authors: salvayre r. Enzyme. 1990;43(2):99-106. doi: 10.1159/000468712. Enzyme. 1990. PMID: 2124538

7

[Alpha-galactosidases and alpha-N-acetylgalactosaminidase. Biochemical bases of Fabry's disease].

Salvayre R, Negre A, Maret A, Douste-Blazy L. Salvayre R, et al. Pathol Biol (Paris). 1984 Apr;32(4):269-84. Pathol Biol (Paris). 1984. PMID: 6326022 Review. French.

8

Accurate differentiation of neuronopathic and nonneuronopathic forms of Niemann-Pick disease by evaluation of the effective residual lysosomal sphingomyelinase activity in intact cells.

Graber D, Salvayre R, Levade T. Graber D, et al. Among authors: salvayre r. J Neurochem. 1994 Sep;63(3):1060-8. doi: 10.1046/j.1471-4159.1994.63031060.x. J Neurochem. 1994. PMID: 8051547

9

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.

10

Different pathways of uptake and degradation of sphingomyelin by lymphoblastoid cells and the potential participation of the neutral sphingomyelinase.

Levade T, Gatt S, Maret A, Salvayre R. Levade T, et al. Among authors: salvayre r. J Biol Chem. 1991 Jul 25;266(21):13519-29. J Biol Chem. 1991. PMID: 1649823 Free article.

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