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Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT).
Guffon N, Pettazzoni M, Pangaud N, Garin C, Lina-Granade G, Plault C, Mottolese C, Froissart R, Fouilhoux A. Guffon N, et al. Among authors: froissart r. Orphanet J Rare Dis. 2021 Jan 31;16(1):60. doi: 10.1186/s13023-020-01644-w. Orphanet J Rare Dis. 2021. PMID: 33517895 Free PMC article.
Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources.
Souillet G, Guffon N, Maire I, Pujol M, Taylor P, Sevin F, Bleyzac N, Mulier C, Durin A, Kebaili K, Galambrun C, Bertrand Y, Froissart R, Dorche C, Gebuhrer L, Garin C, Berard J, Guibaud P. Souillet G, et al. Among authors: froissart r. Bone Marrow Transplant. 2003 Jun;31(12):1105-17. doi: 10.1038/sj.bmt.1704105. Bone Marrow Transplant. 2003. PMID: 12796790
Mucopolysaccharidosis type II--genotype/phenotype aspects.
Froissart R, Moreira da Silva I, Guffon N, Bozon D, Maire I. Froissart R, et al. Acta Paediatr Suppl. 2002;91(439):82-7. doi: 10.1111/j.1651-2227.2002.tb03116.x. Acta Paediatr Suppl. 2002. PMID: 12572848
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.
Sabourdy F, Mourey L, Le Trionnaire E, Bednarek N, Caillaud C, Chaix Y, Delrue MA, Dusser A, Froissart R, Garnotel R, Guffon N, Megarbane A, Ogier de Baulny H, Pédespan JM, Pichard S, Valayannopoulos V, Verloes A, Levade T. Sabourdy F, et al. Among authors: froissart r. Orphanet J Rare Dis. 2015 Mar 15;10:31. doi: 10.1186/s13023-015-0244-7. Orphanet J Rare Dis. 2015. PMID: 25885655 Free PMC article.
LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.
Pettazzoni M, Froissart R, Pagan C, Vanier MT, Ruet S, Latour P, Guffon N, Fouilhoux A, Germain DP, Levade T, Vianey-Saban C, Piraud M, Cheillan D. Pettazzoni M, et al. Among authors: froissart r. PLoS One. 2017 Jul 27;12(7):e0181700. doi: 10.1371/journal.pone.0181700. eCollection 2017. PLoS One. 2017. PMID: 28749998 Free PMC article.
Mutation analysis in 11 French patients with Fabry disease.
Guffon N, Froissart R, Chevalier-Porst F, Maire I. Guffon N, et al. Among authors: froissart r. Hum Mutat. 1998;Suppl 1:S288-90. doi: 10.1002/humu.1380110190. Hum Mutat. 1998. PMID: 9452111 No abstract available.
A diagnosis of progressive myoclonic ataxia guided by blood biomarkers.
Dubot P, Rafiq M, Curot J, Simonetta-Moreau M, Sabourdy F, Pettazzoni M, Froissart R, Levade T, Ory-Magne F. Dubot P, et al. Among authors: froissart r. Parkinsonism Relat Disord. 2022 Jan;94:124-126. doi: 10.1016/j.parkreldis.2021.06.027. Epub 2021 Jul 10. Parkinsonism Relat Disord. 2022. PMID: 34275752 No abstract available.
151 results