Results 11 to 20 of about 3,031 (200)

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

European Journal of Human Genetics, 2013
Kassner, U., Wühle-Demuth, M., Missala, I., Humphries, S., Steinhagen-Thiessen, E., Demuth, I.   +5 more
europepmc   +7 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

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

Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis

Health Technology Assessment, 2023
Background Cascade testing the relatives of people with familial hypercholesterolaemia is an efficient approach to identifying familial hypercholesterolaemia.
Nadeem Qureshi, Bethan Woods, Rita Neves de Faria, Pedro Saramago Goncalves, Edward Cox, Jo Leonardi-Bee, Laura Condon, Stephen Weng, Ralph K Akyea, Barbara Iyen, Paul Roderick, Steve E Humphries, William Rowlands, Melanie Watson, Kate Haralambos, Ryan Kenny, Dev Datta, Zosia Miedzybrodzka, Christopher Byrne, Joe Kai   +19 more
doaj   +2 more sources

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.
Katsunori Ishikawa, Akira Yamamoto, Hiroshi Sudo, Taku Yamamura   +3 more
openaire   +5 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

Dynamic, Interpretable, Machine Learning–Based Outcome Prediction as a New Emerging Opportunity in Acute Ischemic Stroke Patient Care: A Proof‐of‐Concept Study [PDF]

Stroke Research and Treatment, Volume 2025, Issue 1, 2025.
Introduction: While the machine learning (ML) model’s black‐box nature presents a significant barrier to effective clinical application, the dynamic nature of stroke patients’ recovery further undermines the reliability of established predictive scores and models, making them less suitable for accurate prediction and appropriate patient care.
Ivan Petrović, Sava Njegovan, Olivera Tomašević, Dmitar Vlahović, Sonja Rajić, Željko Živanović, Isidora Milosavljević, Ana Balenović, Nikola Jorgovanović, Ali Olcay   +9 more
wiley   +2 more sources

Premature development of iliac artery stenosis in asymptomatic type II hyperlipoproteinemia. [PDF]

Arteriosclerosis: An Official Journal of the American Heart Association, Inc., 1984
There is conflicting evidence on the relationship between increased low density lipoprotein (LDL) concentration in Type II hyperlipoproteinemia and premature development of peripheral atherosclerosis of the lower limbs. We evaluated the early signs of iliac artery involvement in patients with asymptomatic Type II hyperlipoproteinemia. Of these, 23 were
RUBBA, PAOLO OSVALDO FEDERICO, POSTIGLIONE, ALFREDO, DE SIMONE, BIAGIO, Faccenda F, RICCARDI, GABRIELE, Mancini M.   +5 more
openaire   +5 more sources

2022 Consensus statement on the management of familial hypercholesterolemia in Korea [PDF]

The Korean Journal of Internal Medicine, 2022
Familial hypercholesterolemia (FH) is the most common monogenic disorder. Due to the marked elevation of cardiovascular risk, the early detection, diagnosis, and proper management of this disorder are critical.
Chan Joo Lee, Minjae Yoon, Hyun-Jae Kang, Byung Jin Kim, Sung Hee Choi, In-Kyung Jeong, Sang-Hak Lee   +6 more
doaj   +1 more source