Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels

Infantile Refsum disease (IRD) is one of the less severe of Zellweger spectrum disorders (ZSDs), a group of peroxisomal biogenesis disorders resulting from a generalized peroxisomal function impairment. Increased plasma levels of very long chain fatty acids (VLCFA) and phytanic acid are biomarkers u...

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Gepubliceerd in:JIMD Rep
Hoofdauteurs: Sá, Maria João Nabais, Rocha, Júlio C., Almeida, Manuela F., Carmona, Carla, Martins, Esmeralda, Miranda, Vasco, Coutinho, Miguel, Ferreira, Rita, Pacheco, Sara, Laranjeira, Francisco, Ribeiro, Isaura, Fortuna, Ana Maria, Lacerda, Lúcia
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer Berlin Heidelberg 2015
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4864718/
https://ncbi.nlm.nih.gov/pubmed/26303611
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_487
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