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Page 1
Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults.
Mandia D, Chaussenot A, Besson G, Lamari F, Castelnovo G, Curot J, Duval F, Giral P, Lecerf JM, Roland D, Pierdet H, Douillard C, Nadjar Y. Mandia D, et al. Among authors: douillard c. J Neurol. 2019 Aug;266(8):2043-2050. doi: 10.1007/s00415-019-09377-y. Epub 2019 May 21. J Neurol. 2019. PMID: 31115677
[Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases].
Lidove O, Belmatoug N, Froissart R, Lavigne C, Durieu I, Mazodier K, Serratrice C, Douillard C, Goizet C, Cathebras P, Besson G, Amoura Z, Tazi A, Gatfossé M, Rivière S, Sené T, Vanier MT, Ziza JM. Lidove O, et al. Among authors: douillard c. Rev Med Interne. 2017 May;38(5):291-299. doi: 10.1016/j.revmed.2016.10.387. Epub 2016 Nov 22. Rev Med Interne. 2017. PMID: 27884455 French.
Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.
Fontaine M, Kim I, Dessein AF, Mention-Mulliez K, Dobbelaere D, Douillard C, Sole G, Schiff M, Jaussaud R, Espil-Taris C, Boutron A, Wuyts W, Acquaviva C, Vianey-Saban C, Roland D, Joncquel-Chevalier Curt M, Vamecq J. Fontaine M, et al. Among authors: douillard c. Mol Genet Metab. 2018 Apr;123(4):441-448. doi: 10.1016/j.ymgme.2018.02.005. Epub 2018 Feb 12. Mol Genet Metab. 2018. PMID: 29478820
Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY.
Mauhin W, Lidove O, Amelin D, Lamari F, Caillaud C, Mingozzi F, Dzangué-Tchoupou G, Arouche-Delaperche L, Douillard C, Dussol B, Leguy-Seguin V, D'Halluin P, Noel E, Zenone T, Matignon M, Maillot F, Ly KH, Besson G, Willems M, Labombarda F, Masseau A, Lavigne C, Froissart R, Lacombe D, Ziza JM, Hachulla E, Benveniste O. Mauhin W, et al. Among authors: douillard c. Orphanet J Rare Dis. 2018 Jul 31;13(1):127. doi: 10.1186/s13023-018-0877-4. Orphanet J Rare Dis. 2018. PMID: 30064518 Free PMC article.
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.
Mauhin W, Benveniste O, Amelin D, Montagner C, Lamari F, Caillaud C, Douillard C, Dussol B, Leguy-Seguin V, D'Halluin P, Noel E, Zenone T, Matignon M, Maillot F, Ly KH, Besson G, Willems M, Labombarda F, Masseau A, Lavigne C, Lacombe D, Maillard H, Lidove O. Mauhin W, et al. Among authors: douillard c. PLoS One. 2020 May 22;15(5):e0233460. doi: 10.1371/journal.pone.0233460. eCollection 2020. PLoS One. 2020. PMID: 32442237 Free PMC article.
Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients.
Toquet S, Spodenkiewicz M, Douillard C, Maillot F, Arnoux JB, Damaj L, Odent S, Moreau C, Redonnet-Vernhet I, Mesli S, Servais A, Noel E, Charriere S, Rigalleau V, Lavigne C, Kaphan E, Roubertie A, Besson G, Bigot A, Servettaz A, Mochel F, Garnotel R. Toquet S, et al. Among authors: douillard c. J Inherit Metab Dis. 2021 Sep;44(5):1199-1214. doi: 10.1002/jimd.12403. Epub 2021 Jun 7. J Inherit Metab Dis. 2021. PMID: 34014557
Comparison of biomarker for diagnosis of nitrous oxide abuse: challenge of cobalamin metabolic parameters, a retrospective study.
Grzych G, Deheul S, Gernez E, Davion JB, Dobbelaere D, Carton L, Kim I, Guichard JC, Girot M, Humbert L, Bennis A, Joncquel M, Chieux V, Joly A, Nasserdine P, Trillot N, Douillard C, Pigny P, Tard C. Grzych G, et al. Among authors: douillard c. J Neurol. 2023 Apr;270(4):2237-2245. doi: 10.1007/s00415-023-11570-z. Epub 2023 Jan 24. J Neurol. 2023. PMID: 36690804
Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease.
Mauhin W, Tebani A, Amelin D, Abily-Donval L, Lamari F, London J, Douillard C, Dussol B, Leguy-Seguin V, Noel E, Masseau A, Lacombe D, Maillard H, Bekri S, Lidove O, Benveniste O. Mauhin W, et al. Among authors: douillard c. J Clin Med. 2022 Feb 24;11(5):1233. doi: 10.3390/jcm11051233. J Clin Med. 2022. PMID: 35268324 Free PMC article.
86 results