Results 41 to 50 of about 87 (78)

Comparative in vitro study of the pro-apolipoprotein A-I to apolipoprotein A-I converting activity between normal and Tangier plasma. [PDF]

J Clin Invest, 1984
Edelstein C, Gordon JI, Vergani CA, Catapano AL, Pietrini V, Scanu AM.   +5 more
europepmc   +1 more source

Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproproteinemia at the molecular level. [PDF]

J Clin Invest, 1988
Ross RS, Gregg RE, Law SW, Monge JC, Grant SM, Higuchi K, Triche TJ, Jefferson J, Brewer HB.   +8 more
europepmc   +1 more source

Truncated variants of apolipoprotein B cause hypobetalipoproteinaemia. [PDF]

Nucleic Acids Res, 1988
Collins DR, Knott TJ, Pease RJ, Powell LM, Wallis SC, Robertson S, Pullinger CR, Milne RW, Marcel YL, Humphries SE.   +9 more
europepmc   +1 more source

Inference of a molecular defect of apolipoprotein B in hypobetalipoproteinemia by linkage analysis in a large kindred. [PDF]

J Clin Invest, 1988
Leppert M, Breslow JL, Wu L, Hasstedt S, O'Connell P, Lathrop M, Williams RR, White R, Lalouel JM.   +8 more
europepmc   +1 more source

Hormone changes during the menstrual cycle in abetalipoproteinemia: reduced luteal phase progesterone in a patient with homozygous hypobetalipoproteinemia. [PDF]

Proc Natl Acad Sci U S A, 1982
Illingworth DR, Corbin DK, Kemp ED, Keenan EJ.   +3 more
europepmc   +1 more source

Tangier disease: a disorder of intracellular membrane traffic. [PDF]

Proc Natl Acad Sci U S A, 1985
Schmitz G, Assmann G, Robenek H, Brennhausen B.   +3 more
europepmc   +1 more source

In vivo metabolism of a mutant form of apolipoprotein A-I, apo A-IMilano, associated with familial hypoalphalipoproteinemia. [PDF]

J Clin Invest, 1993
Roma P, Gregg RE, Meng MS, Ronan R, Zech LA, Franceschini G, Sirtori CR, Brewer HB.   +7 more
europepmc   +1 more source

Apolipoprotein B detected in the plasma of a patient with homozygous hypobetalipoproteinaemia: implications for aetiology. [PDF]

J Med Genet, 1983
Berger GM, Brown G, Henderson HE, Bonnici F.   +3 more
europepmc   +1 more source

Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met). [PDF]

J Clin Invest, 1992
Klein HG, Lohse P, Pritchard PH, Bojanovski D, Schmidt H, Brewer HB.   +5 more
europepmc   +1 more source

In vivo metabolism of proapolipoprotein A-I in Tangier disease. [PDF]

J Clin Invest, 1987
Bojanovski D, Gregg RE, Zech LA, Meng MS, Bishop C, Ronan R, Brewer HB.   +6 more
europepmc   +1 more source