leukodystrophy : 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

Leukodystrophy, Globoid Cell - 새창 An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses.
Synonyms : Classic Globoid Cell Leukodystrophy, Early-Onset Globoid Cell Leukodystrophy, Galactosylceramide-beta-Galactosidase Deficiency Disease, Globoid Body Sclerosis, Diffuse, Globoid Cell Leukodystrophy, Globoid Leukodystrophy, Krabbe Leukodystrophy
Leukodystrophy, Metachromatic - 새창 An autosomal recessive metabolic disease caused by a deficiency of arylsulfatase A (CEREBROSIDE-SULFATASE) leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms.
Synonyms : Greenfield Disease, Greenfield's Disease, Leukodystrophy, Metachromatic, Adult, Leukodystrophy, Metachromatic, Juvenile, Metachromatic Leukodystrophy, Adult-Type, Metachromatic Leukodystrophy, Infant, Metachromatic Leukodystrophy, Infant-Type