A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity
Crossref DOI link: https://doi.org/10.1186/s13023-016-0468-1
Published Online: 2016-06-24
Published Print: 2016-12
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Sabry, S.
Vuillaumier-Barrot, S.
Mintet, E.
Fasseu, M.
Valayannopoulos, V.
Héron, D.
Dorison, N.
Mignot, C.
Seta, N.
Chantret, I.
Dupré, T.
Moore, S. E. H.