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Congenital disorder of glycosylation type Ia presenting with hydrops fetalis

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 hydrops fetalis has been based on one case report concerning two sibs with hydrops fetalis and CDG‐Ik. Since then two pa...

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Autores principales: van de Kamp, J M, Lefeber, D J, Ruijter, G J G, Steggerda, S J, den Hollander, N S, Willems, S M, Matthijs, G, Poorthuis, B J H M, Wevers, R A
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Group 2007
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2598051/
https://ncbi.nlm.nih.gov/pubmed/17158594
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.044735
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