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Journal Articles

Use of Next Generation Sequencing Panel to Clarify Undiagnosed Cases of Hereditary Hemolytic Anemias

Elisa Fermo, PhD, Cristina Vercellati, PhD, Anna Paola Marcello, PhD, Ebru Yilmaz Keskin, MD, Aurora Feliu Torres, MD, Silverio Perrotta, Tekin Aksu, MD, Anna Zaninoni, BS, Valentina Brancaleoni, MSc, Richard van Wijk, PhD, Sultan Aydin Koker, MD, Alberto Zanella, MD, Agostino Cortelezzi, Prof, Wilma Barcellini, MD, Paola Bianchi, BSc, PhD
Journal: Blood
Blood (2017) 130 (Supplement 1): 3480.
https://doi.org/10.1182/blood.V130.Suppl_1.3480.3480
Published: 2017
Journal Articles

Gene Heterogenicity Diagnosis on Children with Complicated Immunological and Hematological Abnormalities

Chunfu Li, MD, Haixia Guo, MD PhD
Journal: Blood
Blood (2017) 130 (Supplement 1): 4946.
https://doi.org/10.1182/blood.V130.Suppl_1.4946.4946
Published: 2017
Journal Articles

Sitosterolemia: platelets on high-sterol diet

Hervé Falet
Journal: Blood
Blood (2013) 122 (15): 2534–2535.
https://doi.org/10.1182/blood-2013-08-521153
Published: 2013
Journal Articles

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
Journal: Blood
Blood (2013) 122 (15): 2732–2742.
https://doi.org/10.1182/blood-2013-06-510461
Published: 2013
Includes: Multimedia, Supplemental data
Journal Articles

Platelet Activation In Sitosterolemia Mice

Taisuke Kanaji, MD, PhD, Sachiko Kanaji, MD, PhD, Shailendra B. Patel, MD, PhD, Peter J. Newman, PhD
Journal: Blood
Blood (2010) 116 (21): 2022.
https://doi.org/10.1182/blood.V116.21.2022.2022
Published: 2010
Journal Articles

Macrothrombocytopenia and Hemolysis Associated with Phytosterolemia

Gaifeng Wang, Zhaoyue Wang, Lijuan Cao, Minghua Jiang, Xia Bai, Changgeng Ruan, MD, PhD
Journal: Blood
Blood (2010) 116 (21): 2515.
https://doi.org/10.1182/blood.V116.21.2515.2515
Published: 2010
Journal Articles

The mouse mutation “thrombocytopenia and cardiomyopathy” (trac) disrupts Abcg5 : a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia

Thomas H. Chase, Bonnie L. Lyons, Roderick T. Bronson, Oded Foreman, Leah Rae Donahue, Lisa M. Burzenski, Bruce Gott, Priscilla Lane, Belinda Harris, Uta Ceglarek, Joachim Thiery, Henning Wittenburg, Jonathan N. Thon, Joseph E. Italiano, Jr, Kenneth R. Johnson, Leonard D. Shultz
Journal: Blood
Blood (2010) 115 (6): 1267–1276.
https://doi.org/10.1182/blood-2009-05-219808
Published: 2010
Journal Articles

A Specific Subtype of Sitosterolemia with Macrothrombocytopenia in a Chinese Family.

Yanghua Su, MD, Zhaoyue Wang, Haiyan Yang, M.D, Fang Liu, M.D, Xia Bai, B.M, Changgeng Ruan
Journal: Blood
Blood (2006) 108 (11): 1103.
https://doi.org/10.1182/blood.V108.11.1103.1103
Published: 2006
Journal Articles

Unexpected Consequences of Sitosterolemia on Platelet Formation.

Lyndsay Drayer, PhD, Janine Kruit, PhD, Bert Dontje, Gerald de Haan, PhD, Ido Kema, PhD, Edo Vellenga, MD, PhD, Folkert Kuipers, PhD
Journal: Blood
Blood (2006) 108 (11): 1090.
https://doi.org/10.1182/blood.V108.11.1090.1090
Published: 2006