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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: vergnaud s. 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
Large-scale screening of lipase acid deficiency in at risk population.
Tebani A, Sudrié-Arnaud B, Boudabous H, Brassier A, Anty R, Snanoudj S, Abergel A, Abi Warde MT, Bardou-Jacquet E, Belbouab R, Blanchet E, Borderon C, Bronowicki JP, Cariou B, Carette C, Dabbas M, Dranguet H, de Ledinghen V, Ferrières J, Guillaume M, Krempf M, Lacaille F, Larrey D, Leroy V, Musikas M, Nguyen-Khac E, Ouzan D, Perarnau JM, Pilon C, Ratzlu V, Thebaut A, Thevenot T, Tragin I, Triolo V, Vergès B, Vergnaud S, Bekri S. Tebani A, et al. Among authors: vergnaud s. Clin Chim Acta. 2021 Aug;519:64-69. doi: 10.1016/j.cca.2021.04.005. Epub 2021 Apr 20. Clin Chim Acta. 2021. PMID: 33857477 Free article.
A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.
Mamoune A, Bahuau M, Hamel Y, Serre V, Pelosi M, Habarou F, Nguyen Morel MA, Boisson B, Vergnaud S, Viou MT, Nonnenmacher L, Piraud M, Nusbaum P, Vamecq J, Romero N, Ottolenghi C, Casanova JL, de Lonlay P. Mamoune A, et al. Among authors: vergnaud s. PLoS Genet. 2014 Nov 13;10(11):e1004711. doi: 10.1371/journal.pgen.1004711. eCollection 2014 Nov. PLoS Genet. 2014. PMID: 25392908 Free PMC article.
Aldolase A deficiency: Report of new cases and literature review.
Papadopoulos C, Svingou M, Kekou K, Vergnaud S, Xirou S, Niotakis G, Papadimas GK. Papadopoulos C, et al. Among authors: vergnaud s. Mol Genet Metab Rep. 2021 Feb 23;27:100730. doi: 10.1016/j.ymgmr.2021.100730. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33665120 Free PMC article.
Biochemical and immunochemical properties of B lymphocyte cytochrome b558.
Batot G, Paclet MH, Doussière J, Vergnaud S, Martel C, Vignais PV, Morel F. Batot G, et al. Among authors: vergnaud s. Biochim Biophys Acta. 1998 Mar 5;1406(2):188-202. doi: 10.1016/s0925-4439(98)00004-0. Biochim Biophys Acta. 1998. PMID: 9573361 Free article.
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