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Abetalipoproteinemi
Hierarki: | ∟ ∟ ∟ ∟ ∟ ∟ ∟ Abetalipoproteinemi 1 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ Abetalipoproteinemi 1 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ Abetalipoproteinemi 1 sidobegreppX |
Bredare villkor: | |
Anmärkning: | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL.
X |
historyNote*: | 1966(1964)
X |
publicMeSHNote*: | 1966
X |
activeMeSHYear*: | 2007X |
dateCreated*: | 1999-01-01X |
dateEstablished*: | 1966-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | NLMX |
Typ: | |
Samordna villkor: | |
URI: | |
Termer och motsvarande begrepp: | Abeetalipoproteinemia (fi) XAbetalipoproteinemia (en) Microsomal Triglyceride Transfer Protein Deficiency Disease (en, ersatt) Microsomal Triglyceride Transfer Protein Deficiency (en, ersatt) Bassen-Kornzweig Syndrome (en, ersatt) Bassen-Kornzweig Disease (en, ersatt) Abetalipoproteinaemia (la-FI, ersatt) |
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