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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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Stepien, Karolina M., Wierzbicki, Anthony S., Poll-The, Bwee T., Waterham, Hans R., Hendriksz, Christian J.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2016
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Article
Acesso em linha: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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