학술논문
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation
Document Type
Article
Author
Shimada, S.; Adams, D.R.; Gahl, W.A.; Malicdan, M.C.V.; Wolfe, L.A.; Ng, B.G.; Freeze, H.H.; White, A.L.; Nickander, K.K.; Turgeon, C.; Liedtke, K.L.; Peck, D.S.; Raymond, K.M.; Lam, C.T.; Bamshad, M.J.; Font-Montgomery, E.; Lourenco, C.M.; He, M.; Umana, L.A.; Uhles, C.L.; Haynes, D.; Wheeler, P.G.; Nickerson, D.A.; Cushing, T.; Gates, R.; Gomez-Ospina, N.; Byers, H.M.; Scalco, F.B.; Martinez, N.N.; Sachdev, R.; Smith, L.; Poduri, A.; Malone, S.; Harris, R.V.; Scheffer, I.E.; Rosenzweig, S.D.
Source
In: Journal of Medical Genetics . (Journal of Medical Genetics, 5 July 2022, 59(11):1104-1115)
Subject
Language
English
ISSN
14686244
00222593
00222593