Maire I - Search Results

1

Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.

Yasuda M, Shabbeer J, Benson SD, Maire I, Burnett RM, Desnick RJ. Yasuda M, et al. Among authors: maire i. Hum Mutat. 2003 Dec;22(6):486-92. doi: 10.1002/humu.10275. Hum Mutat. 2003. PMID: 14635108

2

Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.

Diaz GA, Gelb BD, Risch N, Nygaard TG, Frisch A, Cohen IJ, Miranda CS, Amaral O, Maire I, Poenaru L, Caillaud C, Weizberg M, Mistry P, Desnick RJ. Diaz GA, et al. Among authors: maire i. Am J Hum Genet. 2000 Jun;66(6):1821-32. doi: 10.1086/302946. Epub 2000 Apr 21. Am J Hum Genet. 2000. PMID: 10777718 Free PMC article.

3

Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.

Froissart R, Guffon N, Vanier MT, Desnick RJ, Maire I. Froissart R, et al. Among authors: maire i. Mol Genet Metab. 2003 Nov;80(3):307-14. doi: 10.1016/S1096-7192(03)00136-7. Mol Genet Metab. 2003. PMID: 14680977

4

Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases.

Asfaw B, Ledvinová J, Dobrovolńy R, Bakker HD, Desnick RJ, van Diggelen OP, de Jong JG, Kanzaki T, Chabas A, Maire I, Conzelmann E, Schindler D. Asfaw B, et al. Among authors: maire i. J Lipid Res. 2002 Jul;43(7):1096-104. doi: 10.1194/jlr.m100423-jlr200. J Lipid Res. 2002. PMID: 12091494 Free article.

5

Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote.

Vervoort R, Gitzelmann R, Bosshard N, Maire I, Liebaers I, Lissens W. Vervoort R, et al. Among authors: maire i. Hum Genet. 1998 Jan;102(1):69-78. doi: 10.1007/s004390050656. Hum Genet. 1998. PMID: 9490302

6

Mutation analysis in 11 French patients with Fabry disease.

Guffon N, Froissart R, Chevalier-Porst F, Maire I. Guffon N, et al. Among authors: maire i. Hum Mutat. 1998;Suppl 1:S288-90. doi: 10.1002/humu.1380110190. Hum Mutat. 1998. PMID: 9452111 No abstract available.

7

Molecular pathology of NEU1 gene in sialidosis.

Seyrantepe V, Poupetova H, Froissart R, Zabot MT, Maire I, Pshezhetsky AV. Seyrantepe V, et al. Among authors: maire i. Hum Mutat. 2003 Nov;22(5):343-52. doi: 10.1002/humu.10268. Hum Mutat. 2003. PMID: 14517945 Review.

8

Enzymatic characterization of four new mutations in the glucose-6 phosphatase (G6PC) gene which cause glycogen storage disease type 1a.

Bruni N, Rajas F, Montano S, Chevalier-Porst F, Maire I, Mithieux G. Bruni N, et al. Among authors: maire i. Ann Hum Genet. 1999 Mar;63(Pt 2):141-6. doi: 10.1046/j.1469-1809.1999.6320141.x. Ann Hum Genet. 1999. PMID: 10738525

9

[Contribution of genotyping in Fabry's disease].

Froissart R, Piraud M, Maire I. Froissart R, et al. Among authors: maire i. Rev Med Interne. 2010 Dec;31 Suppl 2:S275-8. doi: 10.1016/S0248-8663(10)70027-8. Rev Med Interne. 2010. PMID: 21211679 French.

10

[Fabry's disease].

Maire I, Belmatoug N. Maire I, et al. Presse Med. 2007 Jan;36(1 Pt 1):69-70. doi: 10.1016/j.lpm.2006.12.013. Presse Med. 2007. PMID: 17261453 French. No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

144 results

Search Page

Filters