Froissart R - Search Results

1

Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.

Froissart R, Cheillan D, Bouvier R, Tourret S, Bonnet V, Piraud M, Maire I. Froissart R, et al. J Med Genet. 2005 Nov;42(11):829-36. doi: 10.1136/jmg.2004.029744. Epub 2005 Apr 1. J Med Genet. 2005. PMID: 15805149 Free PMC article.

2

Amniotic fluid for screening of lysosomal storage diseases presenting in utero (mainly as non-immune hydrops fetalis).

Piraud M, Froissart R, Mandon G, Bernard A, Maire I. Piraud M, et al. Among authors: froissart r. Clin Chim Acta. 1996 Apr 30;248(2):143-55. doi: 10.1016/0009-8981(95)06250-5. Clin Chim Acta. 1996. PMID: 8740579

3

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. 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.

4

Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients.

Froissart R, Maire I, Millat G, Cudry S, Birot AM, Bonnet V, Bouton O, Bozon D. Froissart R, et al. Clin Genet. 1998 May;53(5):362-8. doi: 10.1111/j.1399-0004.1998.tb02746.x. Clin Genet. 1998. PMID: 9660053

5

[Contribution of genotyping in Fabry's disease].

Froissart R, Piraud M, Maire I. Froissart R, et al. 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.

6

Mucopolysaccharidosis type II: an update on mutation spectrum.

Froissart R, Da Silva IM, Maire I. Froissart R, et al. Acta Paediatr. 2007 Apr;96(455):71-7. doi: 10.1111/j.1651-2227.2007.00213.x. Acta Paediatr. 2007. PMID: 17391447 Review.

7

Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.

Piraud M, Pettazzoni M, Lavoie P, Ruet S, Pagan C, Cheillan D, Latour P, Vianey-Saban C, Auray-Blais C, Froissart R. Piraud M, et al. Among authors: froissart r. J Inherit Metab Dis. 2018 May;41(3):457-477. doi: 10.1007/s10545-017-0126-3. Epub 2018 Mar 19. J Inherit Metab Dis. 2018. PMID: 29556840 Review.

8

Fetal type IV glycogen storage disease: clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family.

L'herminé-Coulomb A, Beuzen F, Bouvier R, Rolland MO, Froissart R, Menez F, Audibert F, Labrune P. L'herminé-Coulomb A, et al. Among authors: froissart r. Am J Med Genet A. 2005 Dec 1;139A(2):118-22. doi: 10.1002/ajmg.a.30945. Am J Med Genet A. 2005. PMID: 16278887

9

Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.

Conter C, Rolland MO, Cheillan D, Bonnet V, Maire I, Froissart R. Conter C, et al. Among authors: froissart r. J Inherit Metab Dis. 2006 Feb;29(1):135-42. doi: 10.1007/s10545-006-0202-6. J Inherit Metab Dis. 2006. PMID: 16601880

10

[Contribution of the measurement of globotriaosylceramide in urine to the diagnosis and follow-up of Fabry disease].

Piraud M, Maire I, Froissart R. Piraud M, et al. Among authors: froissart r. Rev Med Interne. 2010 Dec;31 Suppl 2:S270-4. doi: 10.1016/S0248-8663(10)70026-6. Rev Med Interne. 2010. PMID: 21211678 French.

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

154 results

Search Page

Filters