219 related articles for article (PubMed ID: 25056759)
1. Potential effects of NPC1L1 polymorphisms in protecting against clinical disease in a chinese family with sitosterolaemia.
Hu M; Yuen YP; Kwok JS; Griffith JF; Tomlinson B
J Atheroscler Thromb; 2014; 21(9):989-95. PubMed ID: 25056759
[TBL] [Abstract][Full Text] [Related]
2. A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG5.
Nakano Y; Komiya C; Shimizu H; Mishima H; Shiba K; Tsujimoto K; Ikeda K; Kashimada K; Dateki S; Yoshiura KI; Ogawa Y; Yamada T
Endocr J; 2020 Nov; 67(11):1099-1105. PubMed ID: 32641618
[TBL] [Abstract][Full Text] [Related]
3. First case of sitosterolemia caused by double heterozygous mutations in ABCG5 and ABCG8 genes.
Tada H; Nomura A; Yamagishi M; Kawashiri MA
J Clin Lipidol; 2018; 12(5):1164-1168.e4. PubMed ID: 30007774
[TBL] [Abstract][Full Text] [Related]
4. Heterozygous
Nomura A; Emdin CA; Won HH; Peloso GM; Natarajan P; Ardissino D; Danesh J; Schunkert H; Correa A; Bown MJ; Samani NJ; Erdmann J; McPherson R; Watkins H; Saleheen D; Elosua R; Kawashiri MA; Tada H; Gupta N; Shah SH; Rader DJ; Gabriel S; Khera AV; Kathiresan S
Circ Genom Precis Med; 2020 Oct; 13(5):417-423. PubMed ID: 32862661
[TBL] [Abstract][Full Text] [Related]
5. Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients.
Kaya Z; Sal E; Yorulmaz A; Hsieh YP; Gülen H; Yıldırım AT; Niu DM; Tekin A
J Clin Lipidol; 2021; 15(5):690-698. PubMed ID: 34304999
[TBL] [Abstract][Full Text] [Related]
6. Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia.
Buonuomo PS; Iughetti L; Pisciotta L; Rabacchi C; Papadia F; Bruzzi P; Tummolo A; Bartuli A; Cortese C; Bertolini S; Calandra S
Atherosclerosis; 2017 Jul; 262():71-77. PubMed ID: 28521186
[TBL] [Abstract][Full Text] [Related]
7. Two novel mutations in the ABCG5 gene, c.144 -1G>A and c.1523 delC, in a Mexican family with sitosterolemia.
Colima Fausto AG; González García JR; Wong Ley Madero LE; Magaña Torres MT
J Clin Lipidol; 2016; 10(1):204-8. PubMed ID: 26892138
[TBL] [Abstract][Full Text] [Related]
8. Increased plasma plant sterol concentrations and a heterozygous amino acid exchange in ATP binding cassette transporter ABCG5: a case report.
Keller S; Prechtl D; Aslanidis C; Ceglarek U; Thiery J; Schmitz G; Jahreis G
Eur J Med Genet; 2011; 54(4):e458-60. PubMed ID: 21664501
[TBL] [Abstract][Full Text] [Related]
9. Mutations in the ABCG8 gene are associated with sitosterolaemia in the homozygous form and xanthelasmas in the heterozygous form.
Bardawil T; Rebeiz A; Chaabouni M; El Halabi J; Kambris Z; Abbas O; Abou Hassan O; Hamie L; Bitar F; Ghani Kibbi A; Nemer G; Kurban M
Eur J Dermatol; 2017 Oct; 27(5):519-523. PubMed ID: 28739549
[TBL] [Abstract][Full Text] [Related]
10. Macrothrombocytopenia/stomatocytosis specially associated with phytosterolemia.
Wang G; Cao L; Wang Z; Jiang M; Sun X; Bai X; Ruan C
Clin Appl Thromb Hemost; 2012 Nov; 18(6):582-7. PubMed ID: 22297561
[TBL] [Abstract][Full Text] [Related]
11. Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia.
Bastida JM; Benito R; Janusz K; Díez-Campelo M; Hernández-Sánchez JM; Marcellini S; Girós M; Rivera J; Lozano ML; Hortal A; Hernández-Rivas JM; González-Porras JR
J Thromb Haemost; 2017 Sep; 15(9):1859-1866. PubMed ID: 28696550
[TBL] [Abstract][Full Text] [Related]
12. Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene.
Mannucci L; Guardamagna O; Bertucci P; Pisciotta L; Liberatoscioli L; Bertolini S; Irace C; Gnasso A; Federici G; Cortese C
Eur J Clin Invest; 2007 Dec; 37(12):997-1000. PubMed ID: 17976197
[TBL] [Abstract][Full Text] [Related]
13. Features of chinese patients with sitosterolemia.
Zhou Z; Su X; Cai Y; Ting TH; Zhang W; Lin Y; Xu A; Mao X; Zeng C; Liu L; Li X
Lipids Health Dis; 2022 Jan; 21(1):11. PubMed ID: 35042526
[TBL] [Abstract][Full Text] [Related]
14. Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.
Wang Z; Cao L; Su Y; Wang G; Wang R; Yu Z; Bai X; Ruan C
Am J Hematol; 2014 Mar; 89(3):320-4. PubMed ID: 24166850
[TBL] [Abstract][Full Text] [Related]
15. Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review.
Park JH; Chung IH; Kim DH; Choi MH; Garg A; Yoo EG
J Clin Endocrinol Metab; 2014 May; 99(5):1512-8. PubMed ID: 24423340
[TBL] [Abstract][Full Text] [Related]
16. [Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia].
Fang D; Liang LL; Qiu WJ; Fan YJ; Sun Y; Yan H; Yu YG; Gu XF
Zhonghua Er Ke Za Zhi; 2018 Jun; 56(6):435-439. PubMed ID: 29886606
[No Abstract] [Full Text] [Related]
17. Plant Sterols, Stanols, and Sitosterolemia.
Ajagbe BO; Othman RA; Myrie SB
J AOAC Int; 2015; 98(3):716-723. PubMed ID: 25941971
[TBL] [Abstract][Full Text] [Related]
18. [Clinical and gene study of three pedigrees of phytosterolemia associated with macrothrombocytopenia and hemolysis].
Wang GF; Wang ZY; Cao LJ; Jiang MH; Sun XH; Bai X; Ruan CG
Zhonghua Xue Ye Xue Za Zhi; 2011 May; 32(5):331-6. PubMed ID: 21729603
[TBL] [Abstract][Full Text] [Related]
19. Clinical features, molecular characteristics, and treatments of a Chinese girl with sitosterolemia: A case report and literature review.
Su X; Shao Y; Lin Y; Zhao X; Zhang W; Jiang M; Huang Y; Zeng C; Liu L; Li X
J Clin Lipidol; 2019; 13(2):246-250. PubMed ID: 30782472
[TBL] [Abstract][Full Text] [Related]
20. The natural history of phytosterolemia: Observations on its homeostasis.
Mymin D; Salen G; Triggs-Raine B; Waggoner DJ; Dembinski T; Hatch GM
Atherosclerosis; 2018 Feb; 269():122-128. PubMed ID: 29353227
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]