- Refsum disease
- Refsum disease.См. болезнь Рефсума.(Источник: «Англо-русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд-во ВНИРО, 1995 г.)
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Refsum disease
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Refsum disease — Classification and external resources Phytanic acid ICD 10 G60.1 … Wikipedia
Refsum disease (syndrome) — Ref·sum disease (syndrome) (refґsoom) [Sigvald Bernhard Refsum, Norwegian physician, 1907–1991] see under disease … Medical dictionary
Refsum disease — an autosomal recessive disorder of lipid metabolism in which deficiency of phytanic acid α hydroxylase results in accumulation of phytanic acid; it is manifest chiefly by chronic polyneuritis, retinitis pigmentosa, cerebellar ataxia, and… … Medical dictionary
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
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-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 disease — noun A peroxisomal neurological disease that results in the malformation of myelin sheaths around nerve cells. Syn: Refsum Thiébaut disease, Refsum Thiébaut Klenk Kahlke disease, Heredopathia atactica polyneuritiformis … Wiktionary
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
