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 ...

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).

Signs of Refsum Disease, for example, usually occur around age 20, but can be as late as age 50. Some of the common symptoms include degeneration of the retina in the eye, deafness, and loss of ...

The article on Refsum's disease by Herndon, Steinberg and Uhlendorf in this issue of the Journal documents another step forward in knowledge about this rare and interesting disorder. The ...

DBMR has published a report titled Global Refsum Disease Market Size, Share, Growth, Industry Trends and Forecast to 2027 that provides complete information on the current market situation and ...

The Refsum disease treatment market is evolving, driven by advancements in genetic research, early diagnosis, and innovative therapeutic approaches.” - Exactitude Consultancy CA, UNITED STATES ...

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 ...

Len and Jacob are 9-year-old twins who suffer from a very rare disease called Infantile Refsum disease (IRD). This medical condition falls within the Zellweger spectrum of peroxisome biogenesis ...