Biomaterial Database

[Abetalipoproteinemia--congenital deficiency of beta lipoproteins]. 1976

K Swicowa, and A Dziewicka, and M Gierasimowicz, and A Szolc, and I Wróbel

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008286	Malabsorption Syndromes	General term for a group of MALNUTRITION syndromes caused by failure of normal INTESTINAL ABSORPTION of nutrients.	Malabsorption Syndrome,Syndrome, Malabsorption,Syndromes, Malabsorption
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000012	Abetalipoproteinemia	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.	Bassen-Kornzweig Syndrome,Microsomal Triglyceride Transfer Protein Deficiency,Acanthocytosis,Bassen-Kornzweig Disease,Betalipoprotein Deficiency Disease,Microsomal Triglyceride Transfer Protein Deficiency Disease,Acanthocytoses,Bassen Kornzweig Disease,Bassen Kornzweig Syndrome,Betalipoprotein Deficiency Diseases,Deficiency Disease, Betalipoprotein,Deficiency Diseases, Betalipoprotein,Disease, Betalipoprotein Deficiency,Diseases, Betalipoprotein Deficiency