Number of the records: 1

abetalipoproteinémia

Subject h.	abetalipoproteinémia
Subject h.	Abetalipoproteinemia
Entry terms	Bassenov-Kornzweigov syndróm Bassenova-Kornzweigova choroba choroba z deficitu mikrozomálneho proteínu prenášajúceho triglyceridy deficit mikrozomálneho proteínu prenášajúceho triglyceridy choroba z deficitu mikrozómového proteínu prenášajúceho triglyceridy deficit mikrozomálneho triacylglyceroly transferujúceho proteínu choroba z deficitu mikrozómového proteínu prenášajúceho triacylglyceroly choroba z deficitu betalipoproteínu choroba z nedostatku betalipoproteínov akantocytóza
English X references	Bassen-Kornzweig Syndrome Microsomal Triglyceride Transfer Protein Deficiency
Scope note in English	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.
Links	(1) - MeSH descriptor

subject heading

Number of the records: 1