Results 91 to 100 of about 1,320 (173)

A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis. [PDF]

, 1990
L. B. Nguyen, Sarah Shefer, G Salen, G C Ness, G. Stephen Tint, F. G. Zaki, Isha Rani   +6 more
openalex   +1 more source

Acute Coronary Syndrome Developed in a 17-year-old Boy with Sitosterolemia Comorbid with Takayasu Arteritis: A Rare Case Report and Review of the Literature

, 2021
Keita Iyama, Satoshi Ikeda, Seiji Koga, Tsuyoshi Yoshimuta, Hiroaki Kawano, Sosuke Tsuji, Koji Ando, Kayoko Matsushima, Hayato Tada, Masa‐aki Kawashiri, Atsushi Kawakami, Koji Maemura   +11 more
openalex   +2 more sources

EHA2024 Hybrid Congress

HemaSphere, Volume 8, Issue S1, June 2024.
wiley   +1 more source

Sitosterolemia Exhibiting Severe Hypercholesterolemia with Tendon Xanthomas Due to Compound Heterozygous <i>ABCG5</i> Gene Mutations Treated with Ezetimibe and Alirocumab

, 2020
Hiroki Tanaka, Yuki Watanabe, Shuji Hirano, Hayato Tada, Akihiro Nomura, Masa‐aki Kawashiri, Makoto Takenaga   +6 more
openalex   +2 more sources

Unexpected failure of bile acid malabsorption to stimulate cholesterol synthesis in sitosterolemia with xanthomatosis. Comparison with lovastatin. [PDF]

, 1990
L Nguyen, G Salen, Sarah Shefer, Virgie G. Shore, G. Stephen Tint, G C Ness   +5 more
openalex   +1 more source

Sitosterolemia: platelets on high-sterol diet

Blood, 2013
In this issue of Blood , Kanaji et al have identified the cellular mechanisms responsible for the bleeding abnormality and macrothrombocytopenia associated with sitosterolemia.[1][1] ![Figure][2] Impaired ABCG5/ABCG8 heterodimer function in Abcg5 −/− or Abcg8 −/− hepatocytes ...
openaire   +3 more sources

Sitosterolemia Presenting as Thrombocytopenia and Anemia with Abdominal Pain [PDF]

Diao Yu, Ying‐Ying Huang, Lan Hu, Nan Luo, Jinlin Liu   +4 more
openalex   +1 more source

Clinical and Genetic Spectra of 60 Chinese Patients with Sitosterolemia and the Effecacy of Targeted Treatments

, 2021
Yu Xia, Yu Sun, Bing Xiao, Wenjuan Qiu
openalex   +1 more source

Sluggish sitosterol turnover and hepatic failure to excrete sitosterol into bile cause expansion of body pool of sitosterol in patients with sitosterolemia and xanthomatosis. [PDF]

, 1991
A K Bhattacharyya, W E Connor, Don S. Lin, M M McMurry, R S Shulman   +4 more
openalex   +1 more source

Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia

, 2017
Paola Sabrina Buonuomo, Lorenzo Iughetti, Livia Pisciotta, Claudio Rabacchi, Francesco Papadia, Patrizia Bruzzi, Albina Tummolo, Andrea Bartuli, Claudio Cortese, Stefano Bertolini, S. Calandra   +10 more
openalex   +2 more sources