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Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient.
Vuillaumier-Barrot S, Schiff M, Mattioli F, Schaefer E, Dupont A, Dancourt J, Dupré T, Couvineau A, de Baulny HO, de Lonlay P, Seta N, Moore S, Chantret I. Vuillaumier-Barrot S, et al. Among authors: chantret i. Pediatr Res. 2019 Feb;85(3):384-389. doi: 10.1038/s41390-018-0231-5. Epub 2018 Nov 12. Pediatr Res. 2019. PMID: 30420707
Demonstration of an oligosaccharide-diphosphodolichol diphosphatase activity whose subcellular localization is different than those of dolichyl-phosphate-dependent enzymes of the dolichol cycle.
Massarweh A, Bosco M, Iatmanen-Harbi S, Tessier C, Auberger N, Busca P, Chantret I, Gravier-Pelletier C, Moore SE. Massarweh A, et al. Among authors: chantret i. J Lipid Res. 2016 Jun;57(6):1029-42. doi: 10.1194/jlr.M067330. Epub 2016 Apr 1. J Lipid Res. 2016. PMID: 27037250 Free PMC article.
A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity.
Sabry S, Vuillaumier-Barrot S, Mintet E, Fasseu M, Valayannopoulos V, Héron D, Dorison N, Mignot C, Seta N, Chantret I, Dupré T, Moore SE. Sabry S, et al. Among authors: chantret i. Orphanet J Rare Dis. 2016 Jun 24;11(1):84. doi: 10.1186/s13023-016-0468-1. Orphanet J Rare Dis. 2016. PMID: 27343064 Free PMC article.
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