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pro vyhledávání: '"Hereditary pyropoikilocytosis"'
Akademický článek
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Publikováno v:
Italian Journal of Medicine, Vol 9, Iss 4, Pp 323-329 (2015)
Hemolytic anemia due to abnormalities of the erythrocyte membrane comprises an important group of inherited disorders. These include hereditary spherocytosis, hereditary elliptocytosis, hereditary pyropoikilocytosis, and the hereditary stomatocytosis
Externí odkaz:
https://doaj.org/article/681dfcdc577041c3b5d68f8dec85a6a0
Autor:
Shinji Saitoh, Masanori Kouwaki, Hitoshi Kanno, Hiromi Ogura, Takahiro Sugiura, Tomoko Suzuki, Toshiyuki Yamamoto, Takao Togawa
Publikováno v:
Journal of Pediatric Hematology/Oncology. 43:e250-e254
Hereditary pyropoikilocytosis is a subtype of hereditary elliptocytosis because of biallelic mutations of SPTA1, SPTB, and EPB41. The authors present a proband with neonatal jaundice and hemolytic anemia, with poikilocytosis in the blood film. Target
Autor:
Inés Hernández-Rodríguez, Ángel F. Remacha Sevilla, Elena Krishnevskaya, Vives-Corrons Jl, Isabel Badell, Salvador Payán-Pernía
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
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Red blood cell (RBC) morphology is, in general, the key diagnostic feature for hereditary spherocytosis (HS) and hereditary elliptocytosis (HE). However, in hereditary pyropoikilocytosis (HPP), the severe clinical form of HE, the morphological diagno
Autor:
Anu Aggarwal, Shano Naseem, Arindam Maitra, Man Updesh Singh Sachdeva, Prashant Sharma, Amita Trehan, Manu Jamwal, Reena Das, Deepak Bansal
Publikováno v:
Pediatric Blood & Cancer. 68
Publikováno v:
Hematology, Transfusion and Cell Therapy, Vol 42, Iss 1, Pp 87-89 (2020)
Hematology, Transfusion and Cell Therapy
Hematology, Transfusion and Cell Therapy
Publikováno v:
British Journal of Haematology. 187:13-24
Hereditary erythrocyte membrane disorders are caused by mutations in genes encoding various transmembrane or cytoskeletal proteins of red blood cells. The main consequences of these genetic alterations are decreased cell deformability and shortened e
Autor:
Peter E. Newburger, L. Kate Gowans, David W. Speicher, Desiree Medeiros, Donna A. Wall, Robin D. Hanson, Yelena Maksimova, Colin A. Sieff, Susan J. Baserga, Sara J. Israels, Patrick G. Gallagher, Nupur Mittal, Vincent P. Schulz, Roland Rivera-Santiago, Jennifer A. Rothman, Robert F. Sidonio, Kimberly Lezon-Geyda
Publikováno v:
J Clin Invest
The etiology of severe hemolytic anemia in most patients with recessive hereditary spherocytosis (rHS) and the related disorder hereditary pyropoikilocytosis (HPP) is unknown. Whole exome sequencing of DNA from probands of 24 rHS or HPP kindreds iden
Autor:
Araathi Mohan, Robert M. Johnson, Shruti Bagla, Manisha Gadgeel, Yaddanapudi Ravindranath, Kenya Johnson, Ahmar U. Zaidi, Steven Buck, Miguel Herrera-Martinez
Publikováno v:
Frontiers in Physiology
Frontiers in Physiology, Vol 11 (2020)
Frontiers in Physiology, Vol 11 (2020)
The measurement of band 3 (AE1, SLC4A1, CD233) content of red cells by eosin-5- maleimide (EMA) staining is swiftly replacing conventional osmotic fragility (OF) test as a tool for laboratory confirmation of hereditary spherocytosis across the globe.
Publikováno v:
Annales de biologie clinique. 78(3)