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Page 1
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Tebani A, Sudrié-Arnaud B, Dabaj I, Torre S, Domitille L, Snanoudj S, Heron B, Levade T, Caillaud C, Vergnaud S, Saugier-Veber P, Coutant S, Dranguet H, Froissart R, Al Khouri M, Alembik Y, Baruteau J, Arnoux JB, Brassier A, Brehin AC, Busa T, Cano A, Chabrol B, Coubes C, Desguerre I, Doco-Fenzy M, Drenou B, Elcioglu NH, Elsayed S, Fouilhoux A, Poirsier C, Goldenberg A, Jouvencel P, Kuster A, Labarthe F, Lazaro L, Pichard S, Rivera S, Roche S, Roggerone S, Roubertie A, Sigaudy S, Spodenkiewicz M, Tardieu M, Vanhulle C, Marret S, Bekri S. Tebani A, et al. Among authors: caillaud c. J Med Genet. 2022 Apr;59(4):377-384. doi: 10.1136/jmedgenet-2020-107510. Epub 2021 Mar 18. J Med Genet. 2022. PMID: 33737400
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.
Héron B, Mikaeloff Y, Froissart R, Caridade G, Maire I, Caillaud C, Levade T, Chabrol B, Feillet F, Ogier H, Valayannopoulos V, Michelakakis H, Zafeiriou D, Lavery L, Wraith E, Danos O, Heard JM, Tardieu M. Héron B, et al. Among authors: caillaud c. Am J Med Genet A. 2011 Jan;155A(1):58-68. doi: 10.1002/ajmg.a.33779. Am J Med Genet A. 2011. PMID: 21204211
Neuronal ceroid lipofuscinoses.
Chabrol B, Caillaud C, Minassian B. Chabrol B, et al. Among authors: caillaud c. Handb Clin Neurol. 2013;113:1701-6. doi: 10.1016/B978-0-444-59565-2.00038-1. Handb Clin Neurol. 2013. PMID: 23622391 Review.
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: caillaud c. 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.
Sleep-disordered breathing in children with mucolipidosis.
Tabone L, Caillaud C, Amaddeo A, Khirani S, Michot C, Couloigner V, Brassier A, Cormier-Daire V, Baujat G, Fauroux B. Tabone L, et al. Among authors: caillaud c. Am J Med Genet A. 2019 Jul;179(7):1196-1204. doi: 10.1002/ajmg.a.61167. Epub 2019 Apr 30. Am J Med Genet A. 2019. PMID: 31038846
A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease.
Serratrice C, Stirnemann J, Berrahal A, Belmatoug N, Camou F, Caillaud C, Billette de Villemeur T, Dalbies F, Cador B, Froissart R, Masseau A, Brassier A, Hivert B, Swiader L, Bertchansky I, de Moreuil C, Chabrol B, Durieu I, Leguy Seguin V, Astudillo L, Humbert S, Pichard S, Marcel C, Hau Rainsard I, Bengherbia M, Yousfi K, Berger MG. Serratrice C, et al. Among authors: caillaud c. J Clin Med. 2020 Jul 22;9(8):2343. doi: 10.3390/jcm9082343. J Clin Med. 2020. PMID: 32708003 Free PMC article.
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.
Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, Levade T, Astudillo L, Serratrice J, Brassier A, Rose C, Billette de Villemeur T, Berger MG. Stirnemann J, et al. Among authors: caillaud c. Int J Mol Sci. 2017 Feb 17;18(2):441. doi: 10.3390/ijms18020441. Int J Mol Sci. 2017. PMID: 28218669 Free PMC article. Review.
A new lysosomal storage disorder resembling Morquio syndrome in sibs.
Perrin L, Fenneteau O, Ilharreborde B, Capri Y, Gérard M, Quoc EB, Passemard S, Ghoumid J, Caillaud C, Froissart R, Tabet AC, Lebon S, El Ghouzzi V, Mazda K, Verloes A. Perrin L, et al. Among authors: caillaud c. Eur J Med Genet. 2012 Mar;55(3):157-62. doi: 10.1016/j.ejmg.2012.01.001. Epub 2012 Jan 25. Eur J Med Genet. 2012. PMID: 22330346
264 results