Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected mother

We describe the case of a young woman, from a consanguineous family, affected by adult Refsum disease (ARD, OMIM#266500). ARD is a rare peroxisomal autosomal recessive disease due to deficient alpha‐oxidation of phytanic acid (PA), a branched‐chain fatty acid. The accumulation of PA in organs is tho...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Dubot, Patricia, Astudillo, Léonardo, Touati, Guy, Baruteau, Julien, Broué, Pierre, Roche, Sandrine, Sabourdy, Frédérique, Levade, Thierry
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2019
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6498833/
https://ncbi.nlm.nih.gov/pubmed/31240149
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12020
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