Zobrazeno 1 - 10 of 32 pro vyhledávání: '"Hereditary nonspherocytic hemolytic anemia"'
1
Akademický článek
Hereditary nonspherocytic hemolytic anemia caused by glucose-6-phosphate isomerase (GPI) deficiency in a Chinese patient: a case report
Autor: Yumei Zu, Hui Wang, Weijia Lin, Chaochun Zou
Publikováno v: BMC Pediatrics, Vol 22, Iss 1, Pp 1-6 (2022)
Abstract Background Glucose phosphate isomerase (GPI) deficiency is a rare autosomal recessive disorder that causes hereditary nonspherocytic hemolytic anemia (HNSHA). Homozygous or compound heterozygous mutation of the GPI gene on chromosome 19q13 i
Externí odkaz: https://doaj.org/article/ad23d87929684089a5a6f84c7e9cb42d
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2
Pyruvat kinase deficiency and nonspherocytic hemolytic anemia
Publikováno v: Pediatric Hematology/Oncology and Immunopathology. 19:121-130
The review is devoted to one of the main regulatory enzymes of glycolysis in erythrocytes – pyruvate kinase, a deficiency of which is often the cause of hereditary nonspherocytic hemolytic anemia. The article presents data on the structure and func
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::26cf58e0b0a21bfb2584db63f76884cc
https://doi.org/10.24287/1726-1708-2020-19-3-121-130
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3
Akademický článek
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4
Proteomics reveals reduced expression of tansketolase in pyrimidine 5'-nucleotidase deficient patients
Autor: Brigitte A. van Oirschot, Benjamin A. Barasa, Richard van Wijk, Paola Bianchi, Wouter W. van Solinge, Monique Slijper, Albert J. R. Heck
Publikováno v: Proteomics, 10(8), 859. Wiley-VCH Verlag
Purpose To date it still remains a challenge to correctly and timely diagnose red blood cell (RBC) enzymopathies that result in hereditary non-spherocytic hemolytic anemia, the third most common of which is pyrimidine 5’-nucleotidase (P5N) deficien
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cc65e881def32affc54e89661e6c0d9
https://dspace.library.uu.nl/handle/1874/356939
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5
Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency
Autor: H Iyori, J Ueyama, Hiroshi Fujii, Shiro Miwa, Akira Hirono, Hitoshi Kanno, H Chiba, I Sekine
Publikováno v: Blood. 87:2071-2074
Three unrelated Japanese patients with chronic nonspherocytic hemolytic anemia wer found to have marked deficiency of red blood cell (RBC) reduced glutathoine (GSH) (4.4%, 13.1%, and 6.9% of normal, respectively). A panel of RBC enzyme assays showed
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54ad724eff9636cf9183cb42208b2b98
https://doi.org/10.1182/blood.v87.5.2071.bloodjournal8752071
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7
Hereditary Nonspherocytic Hemolytic Anemia Due to Pyruvate Kinase Deficiency: A Prevalence Study in Quebec (Canada)
Autor: R Friedman, D Marceau, H Hume, M. De Braekeleer, Marcel Milot, P Ross, J Lyonnais, E. de Medicis
Publikováno v: Human Heredity. 42:179-183
Fifty-eight cases of hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency were collected from both laboratories that have performed the assay since 1972 and from attending physicians in the province of Quebec. Using the postal
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a709ebaae41b6bc75db39c1db352592
https://doi.org/10.1159/000154063
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8
Akademický článek
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10
Liver cirrhosis as a consequence of iron overload caused by hereditary nonspherocytic hemolytic anemia
Autor: Guido Gerken, Philip Hilgard
Publikováno v: World Journal of Gastroenterology. 11:1241
Nonspherocytic hereditary anemias are occasionally accompanied by significant iron overload but the significance for the development of chronic liver disease is not clear. We described two cases of patients with chronic liver disease and severe iron
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5298caf7e7562c0fa062edeb2a35c73
https://doi.org/10.3748/wjg.v11.i8.1241
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