Results 31 to 40 of about 1,320 (173)

Compound heterozygous variants in the ABCG5 gene in a Korean boy with sitosterolemia. [PDF]

Ann Pediatr Endocrinol Metab
Bae GY, Kim I, Sung J, Hwang J, Kim MS, Park JH, Cho SY.   +6 more
europepmc   +3 more sources

Clinical, genetic characteristics and long-term follow-up of sitosterolemia in children. [PDF]

Transl Pediatr
Huang S, Du M, Wang X, Liu Y, Song F.
europepmc   +2 more sources

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

Blood Adv
Del Castillo J, Tool ATJ, van Leeuwen K, van Alphen FPJ, Brands MM, Suijker MH, Meijer AB, Hoogendijk AJ, Kuijpers TW.   +8 more
europepmc   +3 more sources

Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2016
Sitosterolemia is an autosomal recessive disorder characterized by increased plant sterol levels, xanthomas, and accelerated atherosclerosis. Although it was originally reported in patients with normolipemic xanthomas, severe hypercholesterolemia have ...
Eun-Gyong Yoo
doaj   +1 more source

The Concise Guide to PHARMACOLOGY 2023/24: Transporters

British Journal of Pharmacology, Volume 180, Issue S2, Page S374-S469, October 2023., 2023
The Concise Guide to PHARMACOLOGY 2023/24 is the sixth in this series of biennial publications. The Concise Guide provides concise overviews, mostly in tabular format, of the key properties of approximately 1800 drug targets, and over 6000 interactions with about 3900 ligands. There is an emphasis on selective pharmacology (where available), plus links
Stephen P. H. Alexander, Doriano Fabbro, Eamonn Kelly, Alistair A. Mathie, John A. Peters, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Jamie A. Davies, Laura Amarosi, Catriona M. H. Anderson, Philip M. Beart, Stefan Broer, Paul A. Dawson, Gergely Gyimesi, Bruno Hagenbuch, James R. Hammond, Jules C. Hancox, Michal Hershfinkel, Ken‐ichi Inui, Yoshikatsu Kanai, Stephan Kemp, Edmund R. S. Kunji, Gavin Stewart, Sotiria Tavoulari, David T. Thwaites, Tiziano Verri   +27 more
wiley   +1 more source

Analysis of various ATP‐binding cassette transporters revealed quantification of ABCB4 as a potential diagnostic tool in primary sclerosing cholangitis (PSC)

Histopathology, Volume 83, Issue 4, Page 559-568, October 2023., 2023
Aims ATP‐binding cassette transporters are important proteins in regulating bile constituent transport between hepatocytes and the bile canalicular system. Dysfunctional transporters lead to accumulation of toxic bile components within hepatocytes or the biliary system, known as cholestasis, resulting in liver damage.
Cornelia Thoeni, Catia T Perciani, Diana Nakib, Damra Camat, Ian D McGilvray, Sonya A MacParland, Sandra Fischer   +6 more
wiley   +1 more source

High prevalence of increased sitosterol levels in hypercholesterolemic children suggest underestimation of sitosterolemia incidence.

PLoS ONE, 2020
BackgroundSitosterolemia is an inherited lipid disorder which presents with elevated serum sitosterol and can result in an increased risk of premature cardiovascular disease. However, sitosterol cannot be accurately measured by routine diagnostic assays,
Joon Hee Lee, Da Young Song, Sun-Hee Jun, Sang Hoon Song, Choong Ho Shin, Chang-Seok Ki, Kyunghoon Lee, Junghan Song   +7 more
doaj   +1 more source

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

J Lipid Atheroscler
Kojima N, Tada H, Nomura A, Usui S, Sakata K, Hayashi K, Nohara A, Inazu A, Kawashiri MA, Takamura M.   +9 more
europepmc   +3 more sources

Plant sterol hyperabsorption caused by uncontrolled diabetes in a patient with a heterozygous ABCG5 variant

Journal of Diabetes Investigation, Volume 13, Issue 11, Page 1934-1938, November 2022., 2022
Plant sterol intake is widely recommended in patients with cardiovascular risk factors based on the inhibitory effect on intestinal cholesterol absorption, except for rare hyperabsorbers with homozygous ABCG5/8 mutations. We report a case of new‐onset type 1 diabetes accompanied by hypercholesterolemia and phytosterolemia, which were improved by ...
Masashi Hasebe, Yorihiro Iwasaki, Yamato Keidai, Kanako Iwasaki, Sachiko Honjo, Akihiro Hamasaki   +5 more
wiley   +1 more source

Dyslipidemia Diagnosis and Treatment: Risk Stratification in Children and Adolescents

Journal of Nutrition and Metabolism, Volume 2022, Issue 1, 2022., 2022
Dyslipidemias or dyslipoproteinemias are quantitative changes in total cholesterol concentration, respective fractions, or triglycerides in the plasma. Evidence supported that dyslipidemia in childhood is associated with atherosclerosis in adulthood, and early identification and treatment potentially reduce cardiovascular risk in adulthood, which is ...
Sara Mosca, Graça Araújo, Vanessa Costa, Joana Correia, Anabela Bandeira, Esmeralda Martins, Helena Mansilha, Mónica Tavares, Margarida P. Coelho, Toshikazu Suzuki   +9 more
wiley   +1 more source