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Refsum's disease — Infobox Disease Name = PAGENAME Caption = Phytanic acid DiseasesDB = 11213 ICD10 = ICD10|G|60|1|g|60 ICD9 = ICD9|356.3 ICDO = OMIM = 266500 MedlinePlus = eMedicineSubj = derm eMedicineTopic = 705 MeshID = D012035 Refsum s disease (Refsum Thiébaut … Wikipedia
Refsum's disease — Ref·sum s disease ref səmz n an autosomal recessive lipidosis characterized by faulty metabolism of phytanic acid resulting in its accumulation in the blood, retinitis pigmentosa, ataxia, deafness, and mental retardation Ref·sum ref su̇m Sigvald… … Medical dictionary
Refsum's disease — an inherited disorder of lipid metabolism resulting in abnormal accumulation of phytanic acid (a fatty acid) in body tissues. This results in a peripheral neuropathy affecting the sensory and motor nerves, diminishing vision due to retinitis… … The new mediacal dictionary
Refsum’s disease — A genetic disorder affecting metabolism of the fatty acid phytanic acid. When phytanic acid accumulates, it causes a number of progressive problems, including inflammation of numerous nerves (polyneuritis), diminishing vision due to retinitis… … Medical dictionary
Disease, phytanic acid storage (Refsum’s disease) — A genetic disorder of the fatty acid phytanic acid which accumulates and causes a number of progressive problems including polyneuritis (inflammation of numerous nerves), diminishing vision (due to retinitis pigmentosa), and wobbliness (ataxia)… … Medical dictionary
Refsum disease — Classification and external resources Phytanic acid ICD 10 G60.1 … Wikipedia
Refsum-Thiebaut-Krankheit — Klassifikation nach ICD 10 G60.1 Refsum Krankheit … Deutsch Wikipedia
Refsum-Thiébaut-Krankheit — Klassifikation nach ICD 10 G60.1 Refsum Krankheit … Deutsch Wikipedia
Refsum-Syndrom — Klassifikation nach ICD 10 G60.1 Refsum Krankheit … Deutsch Wikipedia
Refsum's syndrome — Refsum Disease (also called Refsum s Syndrome) is a genetic disorder that primarily affects the nervous system with a series of debilitating symptoms. Some symptoms include: degenerative nerve disease (peripheral neuropathy); vision loss… … Wikipedia
