Fibroblast‐specific genome‐scale modelling predicts an imbalance in amino acid metabolism in Refsum disease

Refsum disease (RD) is an inborn error of metabolism that is characterised by a defect in peroxisomal α‐oxidation of the branched‐chain fatty acid phytanic acid. The disorder presents with late‐onset progressive retinitis pigmentosa and polyneuropathy and can be diagnosed biochemically by elevated l...

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Detalles Bibliográficos
Autores principales: Wegrzyn, Agnieszka B., Herzog, Katharina, Gerding, Albert, Kwiatkowski, Marcel, Wolters, Justina C., Dolga, Amalia M., van Lint, Alida E. M., Wanders, Ronald J. A., Waterham, Hans R., Bakker, Barbara M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7754141/
https://www.ncbi.nlm.nih.gov/pubmed/32160399
http://dx.doi.org/10.1111/febs.15292

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7754141/
https://www.ncbi.nlm.nih.gov/pubmed/32160399
http://dx.doi.org/10.1111/febs.15292

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