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Glucose-6-phosphatase deficiency.
Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, Eberschweiler PT, Gajdos V, Labrune P. Froissart R, et al. Orphanet J Rare Dis. 2011 May 20;6:27. doi: 10.1186/1750-1172-6-27. Orphanet J Rare Dis. 2011. PMID: 21599942 Free PMC article. Review.
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
Electron transfer flavoprotein deficiency: functional and molecular aspects.
Schiff M, Froissart R, Olsen RK, Acquaviva C, Vianey-Saban C. Schiff M, et al. Among authors: Froissart R. Mol Genet Metab. 2006 Jun;88(2):153-8. doi: 10.1016/j.ymgme.2006.01.009. Epub 2006 Feb 28. Mol Genet Metab. 2006. PMID: 16510302
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.
Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease.
Laforêt P, Petiot P, Nicolino M, Orlikowski D, Caillaud C, Pellegrini N, Froissart R, Petitjean T, Maire I, Chabriat H, Hadrane L, Annane D, Eymard B. Laforêt P, et al. Among authors: Froissart R. Neurology. 2008 May 27;70(22):2063-6. doi: 10.1212/01.wnl.0000313367.09469.13. Neurology. 2008. PMID: 18505979
[Biomarkers in Gaucher disease: up-to-date].
Froissart R. Froissart R. Presse Med. 2009 Dec;38 Suppl 2:2S28-31. doi: 10.1016/S0755-4982(09)73665-6. Presse Med. 2009. PMID: 20304302 French. No abstract available.
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.
Héron B, Mikaeloff Y, Froissart R, Caridade G, Maire I, Caillaud C, Levade T, Chabrol B, Feillet F, Ogier H, Valayannopoulos V, Michelakakis H, Zafeiriou D, Lavery L, Wraith E, Danos O, Heard JM, Tardieu M. Héron B, et al. Among authors: Froissart R. Am J Med Genet A. 2011 Jan;155A(1):58-68. doi: 10.1002/ajmg.a.33779. Am J Med Genet A. 2011. PMID: 21204211
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