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Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variant.
Durin Z, Raynor A, Fenaille F, Cholet S, Vuillaumier-Barrot S, Alili JM, Poupon J, Oussedik ND, Tuchmann-Durand C, Attali J, Touzé R, Dupré T, Lebredonchel E, Akaffou MA, Legrand D, de Lonlay P, Bruneel A, Foulquier F. Durin Z, et al. Among authors: bruneel a. Transl Res. 2024 Apr;266:57-67. doi: 10.1016/j.trsl.2023.11.005. Epub 2023 Nov 25. Transl Res. 2024. PMID: 38013006 Free article.
Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies.
Pascreau T, de la Morena-Barrio ME, Lasne D, Serrano M, Bianchini E, Kossorotoff M, Boddaert N, Bruneel A, Seta N, Vicente V, de Lonlay P, Corral J, Borgel D. Pascreau T, et al. Among authors: bruneel a. J Thromb Haemost. 2019 Nov;17(11):1798-1807. doi: 10.1111/jth.14559. Epub 2019 Jul 28. J Thromb Haemost. 2019. PMID: 31271700 Free article.
Serum bikunin is a biomarker of linkeropathies.
Bruneel A, Dubail J, Roseau C, Prada P, Haouari W, Huber C, Dupré T, Poüs C, Cormier-Daire V, Seta N. Bruneel A, et al. Clin Chim Acta. 2018 Oct;485:178-180. doi: 10.1016/j.cca.2018.06.044. Epub 2018 Jun 30. Clin Chim Acta. 2018. PMID: 29969625 No abstract available.
CDG biochemical screening: Where do we stand?
Bruneel A, Cholet S, Tran NT, Mai TD, Fenaille F. Bruneel A, et al. Biochim Biophys Acta Gen Subj. 2020 Oct;1864(10):129652. doi: 10.1016/j.bbagen.2020.129652. Epub 2020 Jun 5. Biochim Biophys Acta Gen Subj. 2020. PMID: 32512173 Free article. Review.
62 results