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Familial type I hyperlipoproteinemia caused by apolipoprotein C-II deficiency [PDF]

Atherosclerosis, 1979
A study was made on the clinical and biochemical features of siblings of patients with hyperchylomicronemia and its inherited relationship. It was not a case of the classical type of familial LPL deficiency, but of familial apolipoprotein C-II deficiency. The first patient with apolipoprotein C-II deficiency was reported by Breckenridge et al.
Taku Yamamura, Hiroshi Sudo, Katsunori ISHIKAWA, Akira Yamamoto   +3 more
core   +7 more sources

Clinical utility gene card for: hyperlipoproteinemia, TYPE II. [PDF]

Eur J Hum Genet, 2014
Kassner U, Wühle-Demuth M, Missala I, Humphries SE, Steinhagen-Thiessen E, Demuth I.   +5 more
europepmc   +8 more sources

Pseudohomozygous type II hyperlipoproteinemia [PDF]

Japanese journal of human genetics, 1982
A 12-month-old boy with clinical findings suggestive of homozygous familial hypercholesterolemia, who had no secondary causes of hypercholesterolemia, and whose parents had no lipid abnormalities, was reported. No abnormalities were noted in the low density lipoprotein (LDL) receptor activities of the fibroblasts from patient, parents and sibling.
Keisuke Hamada, Tomoko Tanaka, Osamu Yoshii, Sachiyo Saito, Kunio Hayakawa, Nobuaki Kida, Sachiya Ohtaki, Yasuyuki Sakai, Hiroshi Mabuchi   +8 more
openalex   +4 more sources

Type II Hyperlipoproteinemia in Mother and Twins [PDF]

Circulation, 1969
A 36-year-old housewife with type II hyperlipoproteinemia became pregnant with twins. Although the pregnancy was uneventful, the serum triglycerides were elevated during the third trimester, the delivery, and early puerperium. The mother had no complications directly related to the pregnancy despite hypercholesterolemia, coronary atherosclerosis, and ...
Gwo‐Bin Lee, Gregory A. Culley, MAREN J. LAWSON, Leon L. Adcock, William Krivit   +4 more
openalex   +4 more sources

Control of sterol synthesis and of hydroxymethylglutaryl CoA reductase in skin fibroblasts grown from patients with homozygous type II hyperlipoproteinemia

Journal of Lipid Research, 1975
In skin fibroblasts grown from four children with a homozygous form of type II hyperlipoproteinemia, the feedback control of sterol synthesis and the inhibitory effect on hydroxymethylglutaryl (HMG) CoA reductase activity by serum or low density ...
J. Avigan, S.J. Bhathena, M.E. Schreiner
doaj   +2 more sources

The metabolism of low density lipoprotein in familial type II hyperlipoproteinemia [PDF]

Journal of Clinical Investigation, 1972
The metabolism of low density lipoprotein (LDL, beta lipoprotein) was studied in 10 normal individuals and 10 patients with familial type II hyperlipoproteinemia using purified radioiodinated LDL. Over 97% of the label was bound to the protein moiety of LDL and therefore the turnover data reflect the fate and distribution of LDL-apoprotein.
Terry Langer, Warren Strober, Robert I. Levy   +2 more
openalex   +4 more sources

Ghrelin Levels in Male Patients with Hyperlipoproteinemia I, II versus Type 2 Diabetes Mellitus.

مجلة كلية الطب, 2014
Background; Hyperlipoproteinemia (HLP)  are divided in primary and secondary subtypes. Primary HLP is usually due to genetic causes. Secondary HLP is resulting from another underlying disorder such as diabetes mellitus that leads to alterations in plasma
Salma A. Abbas, Samir L. Shkhaier, Baydaa A. Abed   +2 more
doaj   +3 more sources

Identification of an apoC-II variant (apoC-IIBethesda) in a kindred with apoC-II deficiency and type I hyperlipoproteinemia.

Journal of Lipid Research, 1988
Apolipoprotein (apo) C-II deficiency is characterized by elevated plasma triglycerides, chylomicrons, and very low density lipoproteins, as well as reduced levels of low density and high density lipoproteins.
D L Sprecher, L Taam, R E Gregg, S S Fojo, D M Wilson, M L Kashyap, H B Brewer, Jr   +6 more
doaj   +2 more sources

Coronary Artery Disease in 116 Kindred with Familial Type II Hyperlipoproteinemia [PDF]

Circulation, 1974
Analysis of cardiovascular status in adult relatives of 116 kindred affected with familial hyperbetalipoproteinemia (type II hyperlipoproteinemia) was carried out to assess coronary artery disease (CAD) risk in relatives with type II (II) compared to unaffected family members.
Neil J. Stone, Robert I. Levy, Donald S. Fredrickson, Joel Verter   +3 more
openalex   +4 more sources

Isolation and characterization of an apoA-II-containing lipoprotein (LP-A-II:B complex) from plasma very low density lipoproteins of patients with Tangier disease and type V hyperlipoproteinemia.

Journal of Lipid Research, 1991
Previous studies have shown that very low density lipoproteins (VLDL) from patients with Tangier disease are less effective as a substrate for human milk lipoprotein lipase (LPL) than VLDL from normal controls as assessed by measuring the first order ...
P Alaupovic, C Knight-Gibson, CS Wang, D Downs, E Koren, HB Brewer, Jr, RE Gregg   +6 more
doaj   +2 more sources