Norum disease

Taramelli R et al. (1990) Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele.

Muthusethupathi MA et al. (1999) Familial Lecithin:cholesterol acyltransferase deficiency with renal failure in two siblings. First case report from India.

Ng DS et al. (1997) Disruption of the murine lecithin:cholesterol acyltransferase gene causes impairment of adrenal lipid delivery and up-regulation of scavenger receptor class B type I.

Sakai N et al. (1997) Targeted disruption of the mouse lecithin:cholesterol acyltransferase (LCAT) gene. Generation of a new animal model for human LCAT deficiency.

Hoeg JM et al. (1996) Overexpression of lecithin:cholesterol acyltransferase in transgenic rabbits prevents diet-induced atherosclerosis.

Rader DJ et al. (1994) Markedly accelerated catabolism of apolipoprotein A-II (ApoA-II) and high density lipoproteins containing ApoA-II in classic lecithin: cholesterol acyltransferase deficiency and fish-eye disease.

Albers JJ et al. (1981) Familial lecithin-cholesterol acyltransferase: identification of heterozygotes with half-normal enzyme activity and mass.

Utermann G et al. (1981) Lecithin-cholesterol-acyltransferase deficiency: autosomal recessive transmission in a large kindred.

Albers JJ et al. (1981) Genetic control of lecithin-cholesterol acyltransferase (LCAT): measurement of LCAT mass in a large kindred with LCAT deficiency.

Gjone E et al. (1981) Familial lecithin:cholesterol acyltransferase deficiency. Report of a fourth family from northwestern Norway.

Borysiewicz LK et al. (1982) Renal failure in familial lecithin: cholesterol acyltransferase deficiency.

Albers JJ et al. (1982) Familial lecithin-cholesterol acyltransferase deficiency in a Japanese family: evidence for functionally defective enzyme in homozygotes and obligate heterozygotes.

Sakuma M et al. (1982) Familial plasma lecithin: cholesterol acyltransferase deficiency. A new family with partial LCAT activity.

Teisberg P et al. (1981) Genetic heterogeneity in familial lecithin:cholesterol acyltransferase (LCAT) deficiency.

Murayama N et al. (1984) Decreased sodium influx and abnormal red cell membrane lipids in a patient with familial plasma lecithin: cholesterol acyltransferase deficiency.

Gjone E et al. (1968) Familial plasma cholesterol ester deficiency. A study of the erythrocytes.

Gjone E et al. () Familial serum cholesterol ester deficiency. Clinical study of a patient with a new syndrome.

Nordöy A et al. (1971) Familial plasma lecithin: cholesterol acyltransferase deficiency. A study of the platelets.

Teisberg P et al. (1974) Probable linkage of LCAT locus in man to the alpha haptoglobin locus on chromosome 16.

Flatmark AL et al. (1977) Renal transplantation in patients with familial lecithin: cholesterol-acetyltransferase deficiency.

Weber P et al. (1987) Hereditary lecithin-cholesterol acyltransferase deficiency. Case report of a German patient.

Frohlich J et al. (1982) Detection of heterozygotes for familial lecithin: cholesterol acyltransferase (LCAT) deficiency.

Teisberg P et al. (1975) Genetics of LCAT (lecithin: cholesterol acyltransferase) deficiency.

Vergani C et al. (1983) A new case of familial LCAT deficiency.

Norum KR et al. (1967) Familial serum-cholesterol esterification failure. A new inborn error of metabolism.

Norum KR et al. (1974) Lecithin: cholesterol acyltransferase recent research on biochemistry and physiology of the enzyme.

Humphries SE et al. (1988) A study of the structure of the gene for lecithin: cholesterol acyltransferase in four unrelated individuals with familial lecithin: cholesterol acyltransferase deficiency.

Gotoda T et al. (1991) Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency.

Orphanet article

OMIM.ORG article

Wikipedia article