Maire I - Search Results

1

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

2

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

3

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

Hrebícek M, Mrázová L, Seyrantepe V, Durand S, Roslin NM, Nosková L, Hartmannová H, Ivánek R, Cízkova A, Poupetová H, Sikora J, Urinovská J, Stranecký V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV. Hrebícek M, et al. Among authors: maire i. Am J Hum Genet. 2006 Nov;79(5):807-19. doi: 10.1086/508294. Epub 2006 Sep 8. Am J Hum Genet. 2006. PMID: 17033958 Free PMC article.

4

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.

5

GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients.

Tanaka A, Ohno K, Sandhoff K, Maire I, Kolodny EH, Brown A, Suzuki K. Tanaka A, et al. Among authors: maire i. Am J Hum Genet. 1990 Feb;46(2):329-39. Am J Hum Genet. 1990. PMID: 2137287 Free PMC article.

6

Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).

Burwinkel B, Shin YS, Bakker HD, Deutsch J, Lozano MJ, Maire I, Kilimann MW. Burwinkel B, et al. Among authors: maire i. Hum Mol Genet. 1996 May;5(5):653-8. doi: 10.1093/hmg/5.5.653. Hum Mol Genet. 1996. PMID: 8733134

7

The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.

Veiga-da-Cunha M, Gerin I, Chen YT, Lee PJ, Leonard JV, Maire I, Wendel U, Vikkula M, Van Schaftingen E. Veiga-da-Cunha M, et al. Among authors: maire i. Eur J Hum Genet. 1999 Sep;7(6):717-23. doi: 10.1038/sj.ejhg.5200366. Eur J Hum Genet. 1999. PMID: 10482962

8

Germline and somatic mosaicism in a female carrier of Hunter disease.

Froissart R, Maire I, Bonnet V, Levade T, Bozon D. Froissart R, et al. Among authors: maire i. J Med Genet. 1997 Feb;34(2):137-40. doi: 10.1136/jmg.34.2.137. J Med Genet. 1997. PMID: 9039991 Free PMC article.

9

Types I and III Gaucher disease in Poland: incidence of the most common mutations and phenotypic manifestations.

Tylki-Szymańska A, Millat G, Maire I, Czartoryska B. Tylki-Szymańska A, et al. Among authors: maire i. Eur J Hum Genet. 1996;4(6):334-7. doi: 10.1159/000472228. Eur J Hum Genet. 1996. PMID: 9043866

10

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

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