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Page 1
CCDC115-CDG: A new rare and misleading inherited cause of liver disease.
Girard M, Poujois A, Fabre M, Lacaille F, Debray D, Rio M, Fenaille F, Cholet S, Ruel C, Caussé E, Selves J, Bridoux-Henno L, Woimant F, Dupré T, Vuillaumier-Barrot S, Seta N, Alric L, de Lonlay P, Bruneel A. Girard M, et al. Among authors: de lonlay p. Mol Genet Metab. 2018 Jul;124(3):228-235. doi: 10.1016/j.ymgme.2018.05.002. Epub 2018 May 9. Mol Genet Metab. 2018. PMID: 29759592 Free article.
PMM2 intronic branch-site mutations in CDG-Ia.
Vuillaumier-Barrot S, Le Bizec C, De Lonlay P, Madinier-Chappat N, Barnier A, Dupré T, Durand G, Seta N. Vuillaumier-Barrot S, et al. Among authors: de lonlay p. Mol Genet Metab. 2006 Apr;87(4):337-40. doi: 10.1016/j.ymgme.2005.10.015. Epub 2005 Dec 20. Mol Genet Metab. 2006. PMID: 16376131
Epileptic phenotypes in children with respiratory chain disorders.
El Sabbagh S, Lebre AS, Bahi-Buisson N, Delonlay P, Soufflet C, Boddaert N, Rio M, Rötig A, Dulac O, Munnich A, Desguerre I. El Sabbagh S, et al. Epilepsia. 2010 Jul;51(7):1225-35. doi: 10.1111/j.1528-1167.2009.02504.x. Epub 2010 Feb 19. Epilepsia. 2010. PMID: 20196775 Free article.
Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?
Léticée N, Bessières-Grattagliano B, Dupré T, Vuillaumier-Barrot S, de Lonlay P, Razavi F, El Khartoufi N, Ville Y, Vekemans M, Bouvier R, Seta N, Attié-Bitach T. Léticée N, et al. Among authors: de lonlay p. Mol Genet Metab. 2010 Oct-Nov;101(2-3):253-7. doi: 10.1016/j.ymgme.2010.06.009. Epub 2010 Jun 22. Mol Genet Metab. 2010. PMID: 20638314 Review.
The compartmentalisation of phosphorylated free oligosaccharides in cells from a CDG Ig patient reveals a novel ER-to-cytosol translocation process.
Peric D, Durrant-Arico C, Delenda C, Dupré T, De Lonlay P, de Baulny HO, Pelatan C, Bader-Meunier B, Danos O, Chantret I, Moore SE. Peric D, et al. Among authors: de lonlay p, de baulny ho. PLoS One. 2010 Jul 20;5(7):e11675. doi: 10.1371/journal.pone.0011675. PLoS One. 2010. PMID: 20652024 Free PMC article.
Toward genotype phenotype correlations in GFM1 mutations.
Galmiche L, Serre V, Beinat M, Zossou R, Assouline Z, Lebre AS, Chretien F, Shenhav R, Zeharia A, Saada A, Vedrenne V, Boddaert N, de Lonlay P, Rio M, Munnich A, Rötig A. Galmiche L, et al. Among authors: de lonlay p. Mitochondrion. 2012 Mar;12(2):242-7. doi: 10.1016/j.mito.2011.09.007. Epub 2011 Oct 1. Mitochondrion. 2012. PMID: 21986555
Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome.
Brassier A, Ottolenghi C, Boutron A, Bertrand AM, Valmary-Degano S, Cervoni JP, Chrétien D, Arnoux JB, Hubert L, Rabier D, Lacaille F, de Keyzer Y, Di Martino V, de Lonlay P. Brassier A, et al. Among authors: de keyzer y, de lonlay p. Mol Genet Metab. 2013 May;109(1):28-32. doi: 10.1016/j.ymgme.2013.01.017. Epub 2013 Feb 1. Mol Genet Metab. 2013. PMID: 23478190
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.
Monin ML, Mignot C, De Lonlay P, Héron B, Masurel A, Mathieu-Dramard M, Lenaerts C, Thauvin C, Gérard M, Roze E, Jacquette A, Charles P, de Baracé C, Drouin-Garraud V, Khau Van Kien P, Cormier-Daire V, Mayer M, Ogier H, Brice A, Seta N, Héron D. Monin ML, et al. Among authors: de barace c, de lonlay p. Orphanet J Rare Dis. 2014 Dec 11;9:207. doi: 10.1186/s13023-014-0207-4. Orphanet J Rare Dis. 2014. PMID: 25497157 Free PMC article.
365 results