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Page 1
Inherited Proteoglycan Biosynthesis Defects-Current Laboratory Tools and Bikunin as a Promising Blood Biomarker.
Genes (Basel). 2021 Oct 20;12(11):1654. doi: 10.3390/genes12111654.
Genes (Basel). 2021.
PMID: 34828260
Free PMC article.
Review.
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. Among authors: haouari w.
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.
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Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.
Guasto A, Dubail J, Aguilera-Albesa S, Paganini C, Vanhulle C, Haouari W, Gorría-Redondo N, Aznal-Sainz E, Boddaert N, Planas-Serra L, Schlüter A, Vélez-Santamaría V, Verdura E, Bruneel A, Rossi A, Huber C, Pujol A, Cormier-Daire V.
Guasto A, et al. Among authors: haouari w.
Brain. 2022 Oct 21;145(10):3711-3722. doi: 10.1093/brain/awac110.
Brain. 2022.
PMID: 35325049
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Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.
Haouari W, Dubail J, Lounis-Ouaras S, Prada P, Bennani R, Roseau C, Huber C, Afenjar A, Colin E, Vuillaumier-Barrot S, Seta N, Foulquier F, Poüs C, Cormier-Daire V, Bruneel A.
Haouari W, et al.
J Inherit Metab Dis. 2020 Nov;43(6):1349-1359. doi: 10.1002/jimd.12291. Epub 2020 Aug 7.
J Inherit Metab Dis. 2020.
PMID: 32700771
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SLC37A4-CDG: New biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathy.
Raynor A, Haouari W, Ng BG, Cholet S, Harroche A, Raulet-Bussian C, Lounis-Ouaras S, Vuillaumier-Barrot S, Pascreau T, Borgel D, Freeze HH, Fenaille F, Bruneel A.
Raynor A, et al. Among authors: haouari w.
Clin Chim Acta. 2021 Oct;521:104-106. doi: 10.1016/j.cca.2021.07.005. Epub 2021 Jul 8.
Clin Chim Acta. 2021.
PMID: 34245688
Free PMC article.
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