The Challenges of a Successful Pregnancy in a Patient with Adult Refsum’s Disease due to Phytanoyl-CoA Hydroxylase Deficiency

We describe the management and outcomes of pregnancy in a 27-year-old woman with infantile-onset Adult Refsum’s disease (ARD). She presented in infancy but was diagnosed with ARD at the age of 10 on basis of phytanic acidaemia and later confirmed to have the phytanoyl-CoA hydroxylase ((PHYH) c.164de...

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Bibliographic Details
Published in:JIMD Rep
Main Authors: Stepien, Karolina M., Wierzbicki, Anthony S., Poll-The, Bwee T., Waterham, Hans R., Hendriksz, Christian J.
Format: Artigo
Language:Inglês
Published: Springer Berlin Heidelberg 2016
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5413453/
https://ncbi.nlm.nih.gov/pubmed/27518778
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_569
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