Congenital disorder of glycosylation type Ia presenting with hydrops fetalis

Autor: Stefan M. Willems, J.M. van de Kamp, Gert Matthijs, Ben J. H. M. Poorthuis, Dirk J. Lefeber, Ron A. Wevers, N S den Hollander, Sylke J. Steggerda, George J. G. Ruijter

Publikováno v: Journal of Medical Genetics, 44(4), 277-280. BMJ Publishing Group
Journal of Medical Genetics, 44, 4, pp. 277-80
Journal of medical genetics, 44(4), 277-280. BMJ Publishing Group
JOURNAL OF MEDICAL GENETICS, 44(4), 277-280. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 44, 277-80

Contains fulltext : 53596.pdf (Publisher’s version ) (Closed access) There is a growing awareness that inborn errors of metabolism can be a cause of non-immune hydrops fetalis. The association between congenital disorders of glycosylation (CDG) and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adcc804187c3f4f8192e0e872ed250d9
https://europepmc.org/articles/PMC2598051/