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Page 1
The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients.
Stirnemann J, Vigan M, Hamroun D, Heraoui D, Rossi-Semerano L, Berger MG, Rose C, Camou F, de Roux-Serratrice C, Grosbois B, Kaminsky P, Robert A, Caillaud C, Froissart R, Levade T, Masseau A, Mignot C, Sedel F, Dobbelaere D, Vanier MT, Valayanopoulos V, Fain O, Fantin B, de Villemeur TB, Mentré F, Belmatoug N. Stirnemann J, et al. Among authors: froissart r. Orphanet J Rare Dis. 2012 Oct 9;7:77. doi: 10.1186/1750-1172-7-77. Orphanet J Rare Dis. 2012. PMID: 23046562 Free PMC article.
French recommendations for the management of glycogen storage disease type III.
Wicker C, Cano A, Decostre V, Froissart R, Maillot F, Perry A, Petit F, Voillot C, Wahbi K, Wenz J, Laforêt P, Labrune P. Wicker C, et al. Among authors: froissart r. Eur J Med Res. 2023 Jul 24;28(1):253. doi: 10.1186/s40001-023-01212-5. Eur J Med Res. 2023. PMID: 37488624 Free PMC article. Review.
Aseptic meningitis and ischaemic stroke in Fabry disease.
Lidove O, Chauveheid MP, Caillaud C, Froissart R, Benoist L, Alamowitch S, Doan S, Szalat R, Baumann N, Alexandra JF, Lavallée P, Klein I, Vuillemet F, Sedel F, Sacré K, Samson Y, Roullet E, Papo T. Lidove O, et al. Among authors: froissart r. Int J Clin Pract. 2009 Nov;63(11):1663-7. doi: 10.1111/j.1742-1241.2009.02115.x. Int J Clin Pract. 2009. PMID: 19832823
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.
Tardieu M, Cudejko C, Cano A, Hoebeke C, Bernoux D, Goetz V, Pichard S, Brassier A, Schiff M, Feillet F, Rollier P, Mention K, Dobbelaere D, Fouilhoux A, Espil-Taris C, Eyer D, Huet F, Walther-Louvier U, Barth M, Chevret L, Kuster A, Lefranc J, Neveu J, Pitelet G, Ropars J, Rivier F, Roubertie A, Touati G, Vanhulle C, Tardieu E, Caillaud C, Froissart R, Champeaux M, Labarthe F, Chabrol B. Tardieu M, et al. Among authors: froissart r. Eur J Neurol. 2023 Sep;30(9):2828-2837. doi: 10.1111/ene.15894. Epub 2023 Jun 10. Eur J Neurol. 2023. PMID: 37235686 Free article.
How to diagnose acid sphingomyelinase deficiency (ASMD) and Niemann-Pick disease type C from bone marrow and peripheral blood smears.
Girard S, Pettazzoni M, Froissart R, Pagan C, Boyer T, Dulucq S, Gonçalves Monteiro V, Lechevalier N, Loosveld M, Lours C, Mayeur-Rousse C, Pannetier M, Peillon C, Rosenthal MA, Sep Hieng S, Trichet C, Baseggio L; on behalf the French‐Speaking Cellular Haematology Group (GFHC). Girard S, et al. Among authors: froissart r. Hemasphere. 2024 Nov 5;8(11):e70042. doi: 10.1002/hem3.70042. eCollection 2024 Nov. Hemasphere. 2024. PMID: 39507854 Free PMC article. No abstract available.
Acid sphingomyelinase deficiency in France: a retrospective survival study.
Mauhin W, Guffon N, Vanier MT, Froissart R, Cano A, Douillard C, Lavigne C, Héron B, Belmatoug N, Uzunhan Y, Lacombe D, Levade T, Duvivier A, Pulikottil-Jacob R, Laredo F, Pichard S, Lidove O; ASSUR Study Group. Mauhin W, et al. Among authors: froissart r. Orphanet J Rare Dis. 2024 Aug 5;19(1):289. doi: 10.1186/s13023-024-03234-6. Orphanet J Rare Dis. 2024. PMID: 39103853 Free PMC article.
[McArdle's disease revealed by acute low back pain].
Langbour C, Nicolas S, Bigot A, Chu Miow Lin D, Baydoun S, Blasco H, Froissart R, Ferreira-Maldent N, Audemard-Verger A, Maillot F. Langbour C, et al. Among authors: froissart r. Rev Med Interne. 2024 May;45(5):312-315. doi: 10.1016/j.revmed.2024.03.011. Epub 2024 Apr 25. Rev Med Interne. 2024. PMID: 38670875 Free article. French.
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.
Lefèvre CR, Collardeau-Frachon S, Streichenberger N, Berenguer-Martin S, Clémenson A, Massardier J, Prieur F, Laurichesse H, Laffargue F, Acquaviva-Bourdain C, Froissart R, Pettazzoni M. Lefèvre CR, et al. Among authors: froissart r. J Inherit Metab Dis. 2024 Mar;47(2):255-269. doi: 10.1002/jimd.12692. Epub 2023 Nov 27. J Inherit Metab Dis. 2024. PMID: 38012812 Review.
[The French "Phage therapy" transdisciplinary group is born!].
Bleibtreu A, Debarbieux L, Froissart R, Gilmer D, Laurent F, Torres-Barceló C. Bleibtreu A, et al. Among authors: froissart r. Virologie (Montrouge). 2023 Aug 1;27(4):217-218. doi: 10.1684/vir.2023.1014. Virologie (Montrouge). 2023. PMID: 37565676 French. No abstract available.
Characteristics of Patients With Late-Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022.
Lefeuvre C, De Antonio M, Bouhour F, Tard C, Salort-Campana E, Lagrange E, Behin A, Sole G, Noury JB, Sacconi S, Magot A, Nadaj-Pakleza A, Lacour A, Beltran S, Spinazzi M, Cintas P, Renard D, Michaud M, Bedat-Millet AL, Prigent H, Taouagh N, Arrassi A, Hamroun D, Attarian S, Laforêt P; for Pompe Study Group. Lefeuvre C, et al. Neurology. 2023 Aug 29;101(9):e966-e977. doi: 10.1212/WNL.0000000000207547. Epub 2023 Jul 7. Neurology. 2023. PMID: 37419682 Free PMC article.
153 results