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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498833/ https://www.ncbi.nlm.nih.gov/pubmed/31240149 http://dx.doi.org/10.1002/jmd2.12020 |