Refsum : KMLE 의학 검색 엔진 - 의학사전, 의학용어, 의학약어, 의학논문, 약품/의약품 검색

MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 2 페이지: 1

Refsum Disease - 새창 An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES.
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
Refsum Disease, Infantile - 새창 An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE. Features include MENTAL RETARDATION; SENSORINEURAL HEARING LOSS; OSTEOPOROSIS; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of PEROXISOMES.
Synonyms : Infantile Phytanic Acid Storage Disease, Infantile Refsum's Disease, Refsum's Disease, Infantile, Infantile Refsums Disease, Refsums Disease, Infantile