Refsum disease is a rare genetic disorder involving the buildup of a type of fat in your blood and tissues called phytanic acid. This buildup can cause vision loss, hearing loss, and weakness and ...
Refsum disease is a metabolic condition. It occurs due to genetic variations, which results in the buildup of a fatty acid in the body. This fatty acid can then cause damage to the white matter of the ...
A defect in phytanic acid oxidation was demonstrated in cultured fibroblasts derived from skin biopsies of 11 patients with Refsum's disease (heredopathia atactica polyneuritiformis, or HAP). The ...
Construction on the University”s Life Science Institute continued in the background as a symposium held Friday in the Michigan League Ballroom stressed the importance of small companies in Michigan”s ...
In Vivo Study of Phytanic Acid α-Oxidation in Classic Refsum's Disease and Chondrodysplasia Punctata
A series of in vivo experiments is described in which [1-13C]phytanic acid was given as an oral substrate to a healthy subject and two patients showing an impairment in phytanic acid degradation, one ...
Infantile Refsum disease (IRD), a peroxisomal disease with defective phytanic acid oxidation, causes neurological impairment and development delay. Insulin-like growth factor-1 (IGF-1) regulates child ...
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