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Infantile Refsum Disease: Case Report

Summary: Infantile Refsum disease is a rare inborn error of phytanic acid metabolism. It is inherited in an autosomal recessive manner and frequently causes signs and symptoms in the neonate period. The only source of phytanic acid in humans is exogenous, from diet. We report the MR imaging findings...

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Bibliografiske detaljer
Udgivet i:AJNR Am J Neuroradiol
Main Authors: Choksi, Vaishali, Hoeffner, Ellen, Karaarslan, Ercan, Yalcinkaya, Cengiz, Cakirer, Sinan
Format: Artigo
Sprog:Inglês
Udgivet: American Society of Neuroradiology 2003
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8148918/
https://ncbi.nlm.nih.gov/pubmed/14625237
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