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Large-scale screening of lipase acid deficiency in at risk population.
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.
Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation.
Sudrié-Arnaud B, Marguet F, Patrier S, Martinovic J, Louillet F, Broux F, Charbonnier F, Dranguet H, Coutant S, Vezain M, Lanos R, Tebani A, Fuller M, Lamari F, Chambon P, Brehin AC, Trestard L, Tournier I, Marret S, Verspyck E, Laquerrière A, Bekri S.
Sudrié-Arnaud B, et al. Among authors: dranguet h.
Clin Chim Acta. 2018 Jun;481:1-8. doi: 10.1016/j.cca.2018.02.023. Epub 2018 Feb 22.
Clin Chim Acta. 2018.
PMID: 29476731
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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: dranguet h.
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
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Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel.
Sudrié-Arnaud B, Snanoudj S, Dabaj I, Dranguet H, Abily-Donval L, Lebas A, Vezain M, Héron B, Marie I, Duval-Arnould M, Marret S, Tebani A, Bekri S.
Sudrié-Arnaud B, et al. Among authors: dranguet h.
Diagnostics (Basel). 2021 Feb 12;11(2):294. doi: 10.3390/diagnostics11020294.
Diagnostics (Basel). 2021.
PMID: 33673364
Free PMC article.
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Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients.
Ouesleti S, Brunel V, Ben Turkia H, Dranguet H, Miled A, Miladi N, Ben Dridi MF, Lavoinne A, Saugier-Veber P, Bekri S.
Ouesleti S, et al. Among authors: dranguet h.
Clin Chim Acta. 2011 Nov 20;412(23-24):2326-31. doi: 10.1016/j.cca.2011.08.032. Epub 2011 Sep 2.
Clin Chim Acta. 2011.
PMID: 21910976
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