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Page 1
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.
Jeanne M, Ronce N, Remizé S, Arpin S, Baujat G, Breton S, Petit F, Vanlerberghe C, Coeslier-Dieux A, Manouvrier-Hanu S, Vincent-Delorme C, Khau Van Kien P, Van-Gils J, Quélin C, Pasquier L, Odent S, Demurger F, Laffargue F, Francannet C, Martin-Coignard D, Afenjar A, Whalen S, Verloes A, Capri Y, Delahaye A, Plaisancié J, Labrune P, Destree A, Maystadt I, Ciorna Monferrato V, Isidor B, Vincent M, Jean Marçais N, Nambot S, Schaefer E, El Chehadeh S, Lespinasse J, Collignon P, Busa T, Philip N, Willems M, Planes M, Vanakker OM, Lambert L, Leheup B, Mathieu-Dramard M, Morin G, Dieterich K, Ginglinger E, Bayat A, Balasubramanian M, Dauriat B, Haye D, Amiel J, Rio M, Cormier-Daire V, Toutain A. Jeanne M, et al. Among authors: labrune p. J Med Genet. 2025 Mar 20;62(4):258-267. doi: 10.1136/jmg-2022-108868. J Med Genet. 2025. PMID: 39798962
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: labrune p. 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.
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
van Karnebeek CDM, Tarailo-Graovac M, Leen R, Meinsma R, Correard S, Jansen-Meijer J, Prykhozhij SV, Pena IA, Ban K, Schock S, Saxena V, Pras-Raves ML, Drögemöller BI, Grootemaat AE, van der Wel NN, Dobritzsch D, Roseboom W, Schomakers BV, Jaspers YRJ, Zoetekouw L, Roelofsen J, Ferreira CR, van der Lee R, Ross CJ, Kochan J, McIntyre RL, van Klinken JB, van Weeghel M, Kramer G, Weschke B, Labrune P, Willemsen MA, Riva D, Garavaglia B, Moeschler JB, Filiano JJ, Ekker M, Berman JN, Dyment D, Vaz FM, Wasserman WW, Houtkooper RH, van Kuilenburg ABP. van Karnebeek CDM, et al. Among authors: labrune p. Genet Med. 2024 Jun;26(6):101104. doi: 10.1016/j.gim.2024.101104. Epub 2024 Feb 24. Genet Med. 2024. PMID: 38411040 Free PMC article.
Gene Therapy in Patients with the Crigler-Najjar Syndrome.
D'Antiga L, Beuers U, Ronzitti G, Brunetti-Pierri N, Baumann U, Di Giorgio A, Aronson S, Hubert A, Romano R, Junge N, Bosma P, Bortolussi G, Muro AF, Soumoudronga RF, Veron P, Collaud F, Knuchel-Legendre N, Labrune P, Mingozzi F. D'Antiga L, et al. Among authors: labrune p. N Engl J Med. 2023 Aug 17;389(7):620-631. doi: 10.1056/NEJMoa2214084. N Engl J Med. 2023. PMID: 37585628 Clinical Trial.
Adjunctive dexamethasone and 30-day all-cause death after hospital admission in paediatric pneumococcal meningitis: a propensity score analysis.
Giolito A, Levy C, Varon E, Cohen R, Hanna S, Assad Z, Lenglart L, Bechet S, Bonacorsi S, Dubos F, Launay E, Pelleter M, Rybak A, Angoulvant F, Levy M, Ouldali N; French Paediatric Meningitis Network. Giolito A, et al. Lancet Child Adolesc Health. 2025 Apr;9(4):255-261. doi: 10.1016/S2352-4642(25)00029-X. Lancet Child Adolesc Health. 2025. PMID: 40113367
Correction to: short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study.
Weinstein DA, Jackson RJ, Brennan EA, Williams M, Davison JE, de Boer F, Derks T, Ellerton C, Faragher B, Gribben J, Labrune P, McKittrick KM, Murphy E, Ross KM, Steuerwald U, Voillot C, Woodward A, Mundy HR. Weinstein DA, et al. Among authors: labrune p. Orphanet J Rare Dis. 2024 Aug 30;19(1):317. doi: 10.1186/s13023-024-03305-8. Orphanet J Rare Dis. 2024. PMID: 39215332 Free PMC article. No abstract available.
246 results