Orphanet: Refsum disease - Adult refsum disease

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(ARD) is a rare genetic. Other names, Adult Refsum disease, heredopathia atactica polyneuritiformis, phytanic acid oxidase deficiency and phytanic acid storage disease,. Phytanic sfi-flexplate.info · Phytanic acid · Specialty · Neurology · Edit this on Wikidata. Refsum disease is an autosomal recessive neurological disease that results in the.

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By Kajora - 03:07
Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and.
By Kazil - 20:54
The National Institute of Neurological Disorders and Stroke (NINDS) supports research related to Adult Refsum Disease through grants to major research.
By Digis - 12:06
Based on the above, it was proposed that adult Refsum disease could be divided into types 1 and 2, depending on which gene is defective.
By Shakazil - 09:09
A metabolic disease characterized by anosmia, cataract, early-onset retinitis pigmentosa Adult Refsum disease; Classic Refsum disease; HMSN 4; HMSN IV.
By Mulmaran - 01:07
Refsum disease is one of a family of genetic disorders known as the . eyesight in retinitis pigmentosa associated with classical (adult-onset) Refsum disease.

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