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Sitosterolemia with macrothrombocytopenia

MedGen UID:
1003400
Concept ID:
CN322339
Disease or Syndrome

Professional guidelines

PubMed

Bastida JM, Girós ML, Benito R, Janusz K, Hernández-Rivas JM, González-Porras JR
Curr Med Chem 2019;26(37):6766-6775. doi: 10.2174/0929867325666180705145900. PMID: 29984642
Escolà-Gil JC, Quesada H, Julve J, Martín-Campos JM, Cedó L, Blanco-Vaca F
Curr Atheroscler Rep 2014 Jul;16(7):424. doi: 10.1007/s11883-014-0424-2. PMID: 24821603

Recent clinical studies

Etiology

Kaya Z, Sal E, Yorulmaz A, Hsieh YP, Gülen H, Yıldırım AT, Niu DM, Tekin A
J Clin Lipidol 2021 Sep-Oct;15(5):690-698. Epub 2021 Jul 10 doi: 10.1016/j.jacl.2021.07.001. PMID: 34304999
Bastida JM, Girós ML, Benito R, Janusz K, Hernández-Rivas JM, González-Porras JR
Curr Med Chem 2019;26(37):6766-6775. doi: 10.2174/0929867325666180705145900. PMID: 29984642
Patel SB, Graf GA, Temel RE
J Lipid Res 2018 Jul;59(7):1103-1113. Epub 2018 May 4 doi: 10.1194/jlr.R084244. PMID: 29728459Free PMC Article
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. Epub 2017 Aug 5 doi: 10.1111/jth.13777. PMID: 28696550
Ajagbe BO, Othman RA, Myrie SB
J AOAC Int 2015 May-Jun;98(3):716-723. Epub 2015 May 4 doi: 10.5740/jaoacint.SGEAjagbe. PMID: 25941971Free PMC Article

Diagnosis

Gok V, Tada H, Ensar Dogan M, Alakus Sari U, Aslan K, Ozcan A, Yilmaz E, Kardas F, Karakukcu M, Canatan H, Karakukcu C, Dundar M, Inazu A, Unal E
Clin Chim Acta 2022 Apr 1;529:61-66. Epub 2022 Feb 12 doi: 10.1016/j.cca.2022.02.001. PMID: 35167844
Bastida JM, Girós ML, Benito R, Janusz K, Hernández-Rivas JM, González-Porras JR
Curr Med Chem 2019;26(37):6766-6775. doi: 10.2174/0929867325666180705145900. PMID: 29984642
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. Epub 2017 Aug 5 doi: 10.1111/jth.13777. PMID: 28696550
Escolà-Gil JC, Quesada H, Julve J, Martín-Campos JM, Cedó L, Blanco-Vaca F
Curr Atheroscler Rep 2014 Jul;16(7):424. doi: 10.1007/s11883-014-0424-2. PMID: 24821603
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. doi: 10.1002/ajh.23619. PMID: 24166850

Therapy

Gok V, Tada H, Ensar Dogan M, Alakus Sari U, Aslan K, Ozcan A, Yilmaz E, Kardas F, Karakukcu M, Canatan H, Karakukcu C, Dundar M, Inazu A, Unal E
Clin Chim Acta 2022 Apr 1;529:61-66. Epub 2022 Feb 12 doi: 10.1016/j.cca.2022.02.001. PMID: 35167844
Bastida JM, Girós ML, Benito R, Janusz K, Hernández-Rivas JM, González-Porras JR
Curr Med Chem 2019;26(37):6766-6775. doi: 10.2174/0929867325666180705145900. PMID: 29984642
Ajagbe BO, Othman RA, Myrie SB
J AOAC Int 2015 May-Jun;98(3):716-723. Epub 2015 May 4 doi: 10.5740/jaoacint.SGEAjagbe. PMID: 25941971Free PMC Article
Escolà-Gil JC, Quesada H, Julve J, Martín-Campos JM, Cedó L, Blanco-Vaca F
Curr Atheroscler Rep 2014 Jul;16(7):424. doi: 10.1007/s11883-014-0424-2. PMID: 24821603
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. doi: 10.1002/ajh.23619. PMID: 24166850

Prognosis

Bazerbachi F, Conboy EE, Mounajjed T, Watt KD, Babovic-Vuksanovic D, Patel SB, Kamath PS
Ann Hepatol 2017 November-December,;16(6):970-978. doi: 10.5604/01.3001.0010.5290. PMID: 29055934

Clinical prediction guides

Mekchay P, Ittiwut C, Ittiwut R, Akkawat B, Le Grand SM, Leela-Adisorn N, Muanpetch S, Khovidhunkit W, Sosothikul D, Shotelersuk V, Suphapeetiporn K, Rojnuckarin P
Medicine (Baltimore) 2020 Nov 20;99(47):e23275. doi: 10.1097/MD.0000000000023275. PMID: 33217855Free PMC Article
Ajagbe BO, Othman RA, Myrie SB
J AOAC Int 2015 May-Jun;98(3):716-723. Epub 2015 May 4 doi: 10.5740/jaoacint.SGEAjagbe. PMID: 25941971Free PMC Article

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