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

MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 4 페이지: 1

Niemann-Pick Disease, Type A - 새창 The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the RETICULOENDOTHELIAL SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage.
Synonyms : Classical Niemann-Pick Disease, Niemann-Pick Disease, Acute Neuronopathic Form, Niemann-Pick Disease, Acute Neurovisceral Form, Niemann-Pick Disease, Neuronopathic Type, Niemann-Pick's Disease Type A, Type A Niemann-Pick Disease, Niemann Pick Disease, Type A
Niemann-Pick Disease, Type B - 새창 An allelic disorder of TYPE A NIEMANN-PICK DISEASE, a late-onset form. It is also caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE but clinical signs involve only visceral organs (non-neuropathic type).
Synonyms : Niemann-Pick Disease, Adult Non-Neuronopathic, Niemann-Pick Disease, Non-Neuronopathic Type, Niemann-Pick Disease, Type E, Niemann-Pick Disease, Visceral, Niemann-Pick's Disease Type B, Niemann-Pick's Disease Type E, Type B Niemann-Pick Disease
Niemann-Pick Disease, Type C - 새창 An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of gene (NPC1) encoding a protein that mediate intracellular cholesterol transport from lysosomes. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry.
Synonyms : Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia, Niemann-Pick Disease with Cholesterol Esterification Block, Niemann-Pick Disease without Sphingomyelinase Deficiency, Niemann-Pick Disease, Chronic Neuronopathic Form
Niemann-Pick Diseases - 새창 A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.
Synonyms : Niemann Pick Disease, Niemann Pick Diseases