sitosterolemia - PMC

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

Intern Med. 2022 Apr 15; 61(8): 1169–1177. Published online 2021 Oct 5. doi: 10.2169/internalmedicine.8288-21

PMCID:: PMC9107993

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

Joon Hee Lee, Da Young Song, Sun-Hee Jun, Sang Hoon Song, Choong Ho Shin, Chang-Seok Ki, Kyunghoon Lee, Junghan Song

PLoS One. 2020; 15(8): e0238079. Published online 2020 Aug 26. doi: 10.1371/journal.pone.0238079

PMCID:: PMC7449458

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Sitosterolemia, Hypercholesterolemia, and Coronary Artery Disease

Hayato Tada, Atsushi Nohara, Akihiro Inazu, Nagahiko Sakuma, Hiroshi Mabuchi, Masa-aki Kawashiri

J Atheroscler Thromb. 2018 Sep 1; 25(9): 783–789. doi: 10.5551/jat.RV17024

PMCID:: PMC6143779

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Diagnosis and Management of Sitosterolemia 2021

Hayato Tada, Akihiro Nomura, Masatsune Ogura, Katsunori Ikewaki, Yasushi Ishigaki, Kyoko Inagaki, Kazuhisa Tsukamoto, Kazushige Dobashi, Kimitoshi Nakamura, Mika Hori, Kota Matsuki, Shizuya Yamashita, Shinji Yokoyama, Masa-aki Kawashiri, Mariko Harada-Shiba

J Atheroscler Thromb. 2021 Aug 1; 28(8): 791–801. Published online 2021 Apr 28. doi: 10.5551/jat.RV17052

PMCID:: PMC8326170

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Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice

Valentina V. Miroshnikova, Petr A. Vasiluev, Svetlana V. Linkova, Vladislav M. Soloviov, Olga N. Ivanova, Ekaterina R. Tolmacheva, Vasilisa Y. Udalova, Polina V. Baranova, Darya Y. Aleksandrova, Tatiana V. Strokova, Irina M. Miklashevich, Artem D. Izumchenko, Kseniia V. Dracheva, Maria N. Grunina, Nataliya N. Smirnova, Anna S. Kuchina, Ekaterina Y. Zakharova, Sofya N. Pchelina

J Pers Med. 2023 Oct; 13(10): 1492. Published online 2023 Oct 14. doi: 10.3390/jpm13101492

PMCID:: PMC10608675

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Clinical and Genetic Analysis of a Family With Sitosterolemia Caused by a Novel ATP-Binding Cassette Subfamily G Member 5 Compound Heterozygous Mutation

Ming-fang Shen, Ya-nan Hu, Wei-xiang Chen, Li-sheng Liao, Min Wu, Qiu-yan Wu, Jian-hui Zhang, Yan-ping Zhang, Jie-wei Luo, Xin-fu Lin

Front Cardiovasc Med. 2022; 9: 887618. Published online 2022 Apr 26. doi: 10.3389/fcvm.2022.887618

PMCID:: PMC9086554

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Genetic basis of sitosterolemia

Mi-Hye Lee, Kangmo Lu, Shailesh B. Patel

Curr Opin Lipidol. Author manuscript; available in PMC 2006 Jan 25.

Published in final edited form as: Curr Opin Lipidol. 2001 Apr; 12(2): 141–149. doi: 10.1097/00041433-200104000-00007

PMCID:: PMC1350992

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Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review

Dan Huang, Qiong Zhou, Yun-Qi Chao, Chao-Chun Zou

Medicine (Baltimore) 2019 Apr; 98(15): e15013. Published online 2019 Apr 12. doi: 10.1097/MD.0000000000015013

PMCID:: PMC6485811

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Sitosterolemia: A Case Report and a Concise Literature Review

Moeber M. Mahzari

Case Rep Endocrinol. 2023; 2023: 4451595. Published online 2023 Mar 8. doi: 10.1155/2023/4451595

PMCID:: PMC10017212

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Sitosterolemia—10 years observation in two sisters

Lara Veit, Gabriella Allegri Machado, Céline Bürer, Oliver Speer, Johannes Häberle

JIMD Rep. 2019 Jul; 48(1): 4–10. Published online 2019 May 28. doi: 10.1002/jmd2.12038

PMCID:: PMC6607017

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Sitosterolemia With Atherosclerosis in a Child: A Case Report

Hongjun Ba, Huimin Peng, Xiufang He, Liangping Cheng, Yuese Lin, Xuandi Li, Huishen Wang, Youzhen Qin

Front Pediatr. 2021; 9: 668316. Published online 2021 Jun 11. doi: 10.3389/fped.2021.668316

PMCID:: PMC8226013

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Post-prandial Remnant Lipoprotein Metabolism in Sitosterolemia

Hayato Tada, Akihiro Nomura, Atsushi Nohara, Akihiro Inazu, Hiroshi Mabuchi, Masakazu Yamagishi, Masa-aki Kawashiri

J Atheroscler Thromb. 2018 Dec 1; 25(12): 1188–1195. doi: 10.5551/jat.44768

PMCID:: PMC6249359

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Oral Fat Tolerance Test for Sitosterolemia and Familial Hypercholesterolemia: A Study Protocol

Akihiro Nomura, Hayato Tada, Atsushi Nohara, Masa-aki Kawashiri, Masakazu Yamagishi

J Atheroscler Thromb. 2018 Aug 1; 25(8): 741–746. doi: 10.5551/jat.42960

PMCID:: PMC6099073

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Progress and perspectives in plant sterol and plant stanol research

Peter J H Jones, Maryam Shamloo, Dylan S MacKay, Todd C Rideout, Semone B Myrie, Jogchum Plat, Jean-Baptiste Roullet, David J Baer, Kara L Calkins, Harry R Davis, P Barton Duell, Henry Ginsberg, Helena Gylling, David Jenkins, Dieter Lütjohann, Mohammad Moghadasian, Robert A Moreau, David Mymin, Richard E Ostlund, Jr, Rouyanne T Ras, Javier Ochoa Reparaz, Elke A Trautwein, Stephen Turley, Tim Vanmierlo, Oliver Weingärtner

Nutr Rev. 2018 Oct; 76(10): 725–746. Published online 2018 Aug 7. doi: 10.1093/nutrit/nuy032

PMCID:: PMC6130982

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Investigating Sitosterolemia to Understand Lipid Physiology

T. Hang Nghiem-Rao, Shailendra B. Patel

Clin Lipidol. Author manuscript; available in PMC 2018 Jun 18.

Published in final edited form as: Clin Lipidol. 2013; 8(3): 649–658. Published online 2017 Jan 18. doi: 10.2217/clp.13.60

PMCID:: PMC6005666

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Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemia

Taisuke Kanaji, Sachiko Kanaji, Robert R. Montgomery, Shailendra B. Patel, Peter J. Newman

Blood. 2013 Oct 10; 122(15): 2732–2742. Prepublished online 2013 Aug 7. doi: 10.1182/blood-2013-06-510461

PMCID:: PMC3795464

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Two Genes That Map to the STSL Locus Cause Sitosterolemia: Genomic Structure and Spectrum of Mutations Involving Sterolin-1 and Sterolin-2, Encoded by ABCG5 and ABCG8, Respectively

Kangmo Lu, Mi-Hye Lee, Starr Hazard, Angela Brooks-Wilson, Hideki Hidaka, Hideto Kojima, Leiv Ose, Anton F. H. Stalenhoef, Tatu Mietinnen, Ingemar Bjorkhem, Eric Bruckert, Arti Pandya, H. Bryan Brewer, Jr., Gerald Salen, Michael Dean, Anand Srivastava, Shailendra B. Patel

Am J Hum Genet. 2001 Aug; 69(2): 278–290. Published online 2001 Jul 9. doi: 10.1086/321294

PMCID:: PMC1201544

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PMC Images search for sitosterolemia

Fig. 3.

Physical xanthomas in sitosterolemia
Tendious xantomas of the case with sitosterolemia (16-year-old male, Ref. )
Achilles' tendon xanthomas with sitosterolemia (16-year-male, Ref. 6)
Xanthomas at the wrist (1-year-old female, Ref. )
Xanthomas at the ankle (1-year-old female, Ref. )

Sitosterolemia, Hypercholesterolemia, and Coronary Artery Disease

J Atheroscler Thromb. 2018 Sep 1;25(9):783-789.
Fig. 2

The sitosterolemia diagnosis and treatment flowchart

Features of chinese patients with sitosterolemia

Lipids Health Dis. 2022;21:11.
Fig.2. Xanthomas in patients with dyslipidemias

(A) Systemic xanthomas in a patient with homozygous FH (3-year-old boy)
(B) X-ray of Achilles’ tendon in a patient with ARH (67-year-male)
(C) Achilles’ tendon xanthomas in a patient with ARH (67-year-male)
(D) X-ray of Achilles’ tendon in a patient with CTX (63-year-male)
(E) Achilles’ tendon xanthomas in a patient with CTX (63-year-male)
(F) Xanthomas at the ankle in a patient with sitosterolemia (1-year-old girl)
(G) Xanthomas at the wrist in a patient with sitosterolemia (1-year-old girl)

Diagnosis and Management of Sitosterolemia 2021

J Atheroscler Thromb. 2021 Aug 1;28(8):791-801.
Fig. 1

The proportion of clinical manifestations in 55 Chinese patients with sitosterolemia

Features of chinese patients with sitosterolemia

Lipids Health Dis. 2022;21:11.