| IRD | infantile Refsum syndrome; isorhythmic dissociation |
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| IRD | Infantile Refsum disease |
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| refsum disease | A chronic progressive peripheral neuropathy which is probably inherited in an autosomal recessive manner. Some of the manifestations of this disorder are atypical retinitis pigmentosa, cerebellar ataxia, and increased cerebrospinal protein levels. Excessive phytanic acid storage has been found in most cases. Onset of symptoms usually occurs in early childhood. Infantile refsum disease (see peroxisomal disorders) differs in that it also includes mental retardation, dysmorphic features, peroxisomal deficiency, and very early onset. (12 Dec 1998) |
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| 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) caused by damage to the cerebellar portion of the brain (cerebellar ataxia). (12 Dec 1998) |
| Refsum's syndrome | 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) caused by damage to the cerebellar portion of the brain (cerebellar ataxia). (12 Dec 1998) |
| Refsum, Sigvald | <person> Norwegian neurologist, *1907. See: Refsum's disease, Refsum's syndrome. (05 Mar 2000) |
| disease, refsum's | 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) caused by damage to the cerebellar portion of the brain (cerebellar ataxia). (12 Dec 1998) |
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Synonyms : Hemeralopia Heredoataxia Polyneuritiformis, Hereditary Motor and Sensory Neuropathy, Type IV, Hereditary Type IV Motor and Sensory Neuropathy, Refsum Disease, Phytanic Acid Oxidase Deficiency, Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency
Synonyms : Infantile Phytanic Acid Storage Disease, Infantile Refsum's Disease, Refsum's Disease, Infantile, Infantile Refsums Disease, Refsums Disease, Infantile
| Refsum's disease |
(Ref
출처: www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspz...
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| Refsum's d. |
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 persistent elevation of protein in cerebrospinal fluid; there may also be ichthyosis, nerve deafness, and electrocardiographic abnormalities. Called also phytanic acid storage d., and heredopathia atactica polyneuritiformis.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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| Refsum's disease (syndrome) |
see under disease.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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