Enzyme Replacement Therapy During Pregnancy in Fabry Patients: Review of Published Cases of Live Births and a New Case of a Severely Affected Female with Fabry Disease and Pre-eclampsia Complicating Pregnancy

Fabry disease (FD) is an X-linked, lysosomal storage disease. Mutations in the gene coding for alpha-galactosidase A lead to globotriaosylceramide (Gb-3) accumulation in lysosomes and in placenta and umbilical cord. Impact of FD and treatment with enzyme replacement (ERT) on foetal development is un...

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Udgivet i:JIMD Rep
Main Authors: Madsen, Christoffer V., Christensen, Erik Ilsø, Nielsen, Rikke, Mogensen, Helle, Rasmussen, Åse K., Feldt-Rasmussen, Ulla
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2018
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6323029/
https://ncbi.nlm.nih.gov/pubmed/30117110
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2018_129
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