Results 71 to 80 of about 1,240 (187)

Increased plasma plant sterol levels in heterozygotes with sitosterolemia and xanthomatosis.

Journal of Lipid Research, 1990
Plasma sterol levels in a family of sitosterolemia and xanthomatosis were determined by a high performance liquid chromatography. Three affected siblings manifested marked xanthomatosis including subcutaneous soft tissues and generalized atherosclerosis.
H Hidaka, T Nakamura, T Aoki, H Kojima, Y Nakajima, K Kosugi, I Hatanaka, M Harada, M Kobayashi, A Tamura   +9 more
doaj   +1 more source

Familial Spinal Xanthomatosis with Sitosterolemia.

Internal Medicine, 1992
A family with multiple spinal xanthomas and sitosterolemia is described. A 48-year-old woman presented with paraplegia due to multiple intradural extramedullary tumors. The patient also showed marked tendon xanthomas and analysis of sterol composition in both plasma and the xanthoma established the diagnosis of the rare inherited metabolic disease ...
HIDAKA, Hideki, YASUDA, Hitoshi, KOBAYASHI, Masashi, HATANAKA, Ikuo, TAKAHASHI, Masayuki, MATSUMOTO, Keiji, ITOH, Ryuta, OKABE, Hidetoshi, KIKKAWA, Ryuichi, SHIGETA, Yukio   +9 more
openaire   +3 more sources

HMG-CoA reductase is not the site of the primary defect in phytosterolemia

Journal of Lipid Research, 1998
Phytosterolemia is an autosomal recessive disorder characterized by the excessive absorption, reduced excretion, and consequent high tissue and plasma levels of plant sterols, by the presence of tendon xanthomas, and by premature atherosclerosis. Low HMG-
G.M.B. Berger, R.J. Pegoraro, S.B. Patel, P. Naidu, L. Rom, H. Hidaka, A.D. Marais, A. Jadhav, R.P. Naoumova, G.R. Thompson   +9 more
doaj   +1 more source

Ezetimibe normalizes metabolic defects in mice lacking ABCG5 and ABCG8

Journal of Lipid Research, 2005
The ATP binding cassette transporters ABCG5 (G5) and ABCG8 (G8) limit the accumulation of neutral sterols by restricting sterol uptake from the intestine and promoting sterol excretion into bile.
Liqing Yu, Klaus von Bergmann, Dieter Lütjohann, Helen H. Hobbs, Jonathan C. Cohen   +4 more
doaj   +1 more source

Platelet proteomic profiling in sitosterolemia suggests thrombocytopenia is driven by lipid disorder and not platelet aberrations. [PDF]

Blood Adv
Sitosterolemia is a rare autosomal recessive genetic disorder in which patients develop hypercholesterolemia and may exhibit abnormal hematologic and/or liver test results.
Del Castillo J, Tool ATJ, van Leeuwen K, van Alphen FPJ, Brands MM, Suijker MH, Meijer AB, Hoogendijk AJ, Kuijpers TW.   +8 more
europepmc   +2 more sources

ABCG5 and ABCG8 variants associated to sitosterolemia in ClinVar – state of art

, 2023
Sitosterolemia is a rare lipid disorder characterized by the accumulation of plant sterols in the blood, which can lead to several cardiovascular complications.
Bourbon, Mafalda, Miranda, Beatriz Raposo, Alves, Ana Catarina   +2 more
core  

Putative Pathogenic Variants of ABCG5 and ABCG8 of Sitosterolemia in Patients With Hyper-Low-Density Lipoprotein Cholesterolemia

Journal of Lipid and Atherosclerosis
Objective Sitosterolemia is a rare autosomal recessive disease caused by the deleterious variants of adenosine 5'-triphosphate (ATP)-binding cassette sub-family G member 5 (ABCG5) or ATP-binding cassette sub-family G member 8 (ABCG8). There are only few
Nobuko Kojima, Hayato Tada, Akihiro Nomura, Soichiro Usui, Kenji Sakata, Kenshi Hayashi, Atsushi Nohara, Akihiro Inazu, Masa-aki Kawashiri, Masayuki Takamura   +9 more
doaj   +1 more source

Three‐generation female cohort with macrocytic anemia and iron overload

American Journal of Hematology, Volume 100, Issue 1, Page 133-138, January 2025.
Alexander A. Boucher, Vanessa J. Dayton, Annaliisa R. Pratt, Nicolas N. Nassar, Yasmin Elgammal, Theodosia A. Kalfa   +5 more
wiley   +1 more source

Image_3_Red blood cells from patients with sitosterolemia exhibit impaired membrane lipid composition and distribution and decreased deformability.jpeg

, 2023
Sitosterolemia is a metabolic disorder leading to excessive accumulation of phytosterols. Hemolytic stomatocytosis and macrothrombocytopenia are part of the clinical picture.
Jeroen B. van der Net (7382099), Ad Koster (14728030), Brigitte A. van Oirschot (14728027), Giulio G. Muccioli (199353), Eric Mignolet (329701), Minke A. E. Rab (14728024), Richard van Wijk (10180793), Romano Terrasi (9082928), Anne-Sophie Cloos (9082913), Kelly Kleinen (14728033), Donatienne Tyteca (228976), Patrick Van Der Smissen (228969), Yvan Larondelle (217999)   +12 more
core   +1 more source

Sitosterolemia causada por mutaciones en el gen ABCG8. Primer reporte de caso en Colombia

, 2023
Introduction: Sitosterolemia is an autosomal recessive disease caused by mutations in the ABCG5 or ABCG8 genes. It is characterized by reduced excretion of plant sterols and cholesterol, leading to the development of hypercholesterolemia, xanthomas, and ...
Blanco-Bustos, Maria Paula, Saavedra-López , Harold Felipe, Ospina-Lagos, Sandra Yaneth   +2 more
core   +1 more source