Sitosterolemia: Four Cases of an Uncommon Cause of Hemolytic Anemia (Mediterranean Stomatocytosis with Macrothrombocytopenia)-Reference-Cited by-同舟云学术

Sitosterolemia: Four Cases of an Uncommon Cause of Hemolytic Anemia (Mediterranean Stomatocytosis with Macrothrombocytopenia)

Published:2020-10-22 Issue:1 Volume:37 Page:157-161
ISSN:0971-4502
Container-title:Indian Journal of Hematology and Blood Transfusion
language:en
Short-container-title:Indian J Hematol Blood Transfus

Author:

Desai Sudhamsh Reddy,Korula Anu^ORCID,Kulkarni Uday Prakash,Menon Aswathy Ashok,Ramachandran Shaji V.,Sindhuvi Eunice,Nellickal Arun Jose,Nair Sukesh C.,George Biju

Publisher

Springer Science and Business Media LLC

Subject

Hematology

Link

https://link.springer.com/content/pdf/10.1007/s12288-020-01346-0.pdf

Reference37 articles.

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2. Escola-Gil JC, Quesada H, Julve J, Martin-Campos JM, Cedo L, Blanco-Vaca F (2014) Sitosterolemia: diagnosis, investigation, and management. Curr Atheroscler Rep 16(7):424

3. Wang Y, Guo YL, Dong QT, Li JJ (2019) Severe aortic valve stenosis in a 14-year-old boy with sitosterolemia. J Clin Lipidol 13(1):49–53

4. Lu K, Lee MH, Hazard S, Brooks-Wilson A, Hidaka H, Kojima H et al (2001) 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. Am J Hum Genet 69(2):278–290

5. Yoo EG (2016) Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management. Ann Pediatr Endocrinol Metab 21(1):7–14

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