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Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients.
Gardin A, Castelle M, Pichard S, Cano A, Chabrol B, Piarroux J, Roubertie A, Nadjar Y, Guemann AS, Tardieu M, Lacombe D, Robert MP, Caillaud C, Froissart R, Leboeuf V, Barbier V, Bouchereau J, Schiff M, Fauroux B, Thierry B, Luscan R, James S, de Saint-Denis T, Pannier S, Gitiaux C, Vergnaud E, Boddaert N, Lascourreges C, Lemoine M, Bonnet D, Blanche S, Dalle JH, Neven B, de Lonlay P, Brassier A. Gardin A, et al. Among authors: fauroux b. Bone Marrow Transplant. 2023 Mar;58(3):295-302. doi: 10.1038/s41409-022-01886-1. Epub 2022 Dec 9. Bone Marrow Transplant. 2023. PMID: 36494569 Free PMC article.
Sleep in infants with congenital myasthenic syndromes.
Caggiano S, Khirani S, Verrillo E, Barnerias C, Amaddeo A, Gitiaux C, Thierry B, Desguerre I, Cutrera R, Fauroux B. Caggiano S, et al. Among authors: fauroux b. Eur J Paediatr Neurol. 2017 Nov;21(6):842-851. doi: 10.1016/j.ejpn.2017.07.010. Epub 2017 Jul 21. Eur J Paediatr Neurol. 2017. PMID: 28755803
A retrospective study on sleep-disordered breathing in Morquio-A syndrome.
Facchina G, Amaddeo A, Baujat G, Breton S, Michot C, Thierry B, James S, de Saint Denis T, Zerah M, Khirani S, Cormier-Daire V, Fauroux B. Facchina G, et al. Among authors: fauroux b. Am J Med Genet A. 2018 Dec;176(12):2595-2603. doi: 10.1002/ajmg.a.40642. Epub 2018 Nov 18. Am J Med Genet A. 2018. PMID: 30450712
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: fauroux b. 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
Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiency.
Barcia G, Khirani S, Amaddeo A, Assouline Z, Pennisi A, Boddaert N, Romero N, Desguerre I, Schiff M, Rötig A, Besmond C, Bonnefont JP, Munnich A, Fauroux B. Barcia G, et al. Among authors: fauroux b. Neuromuscul Disord. 2020 Jul;30(7):593-598. doi: 10.1016/j.nmd.2020.06.002. Epub 2020 Jun 10. Neuromuscul Disord. 2020. PMID: 32654952
Sleep-disordered breathing and its management in children with rare skeletal dysplasias.
Nguyen DB, Khirani S, Griffon L, Baujat G, Michot C, Marzin P, Rondeau S, Luscan R, Couloigner V, Pejin Z, Zerah M, Cormier-Daire V, Fauroux B. Nguyen DB, et al. Among authors: fauroux b. Am J Med Genet A. 2021 Jul;185(7):2108-2118. doi: 10.1002/ajmg.a.62236. Epub 2021 Apr 28. Am J Med Genet A. 2021. PMID: 33908178
332 results