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of 124
pro vyhledávání: '"L Perseu"'
Akademický článek
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Publikováno v:
Thalassemia Reports, Vol 1, Iss 1, Pp e6-e6 (2011)
The clinical manifestations of β-thalassemia are extremely heterogeneous, ranging from severe transfusion-dependent anemia, to the mild non transfusion dependent thalassemia intermedia and to the asymptomatic carrier state. The remarkable phenotypic
Externí odkaz:
https://doaj.org/article/d8a5665ed66640509099b5661f9e591d
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Autor:
Susanna Barella, Simona Campus, Raffaella Origa, Renzo Galanello, Patrizio Bina, Maria Carla Sollaino, L Perseu, C. Mandas, Nicolina Giagu
Publikováno v:
British Journal of Haematology. 136:326-332
In this study, 251 Sardinian patients (187 adults and 64 children) with haemoglobin (Hb) H disease were evaluated. Two-hundred and sixteen patients (86%) had the deletional type (- -/-alpha) and 36 (14%) patients had the non-deletional type (- -/alph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12e7dbc1753a7c3f832e0929b322e78b
https://doi.org/10.1111/j.1365-2141.2006.06423.x
https://doi.org/10.1111/j.1365-2141.2006.06423.x
Autor:
Raffaella Origa, Giuseppe Marceddu, Fabrice Danjou, L Perseu, Filomena Longo, Renzo Galanello, Stefania Satta, Maria Eliana Lai, A. Piga, Franca Rosa Demartis, Stefania Vacquer
Publikováno v:
Annals of Hepatology, Vol 14, Iss 3, Pp 389-395 (2015)
Background and relationale for the study. Genome-wide association studies have identified host genetic variation to be critical for spontaneous clearance and treatment response in patients infected with hepatitis C virus. Recently, the role of the IF
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb5c0166e797f6d6c889af8608177c2a
https://pubmed.ncbi.nlm.nih.gov/25864220
https://pubmed.ncbi.nlm.nih.gov/25864220
Autor:
E. Paglietti, L Maccioni, Maria Antonietta Melis, D. Gasperini, Maria Carla Sollaino, Renzo Galanello, L. Perseu, Antonio Cao
Publikováno v:
American Journal of Hematology. 57:43-47
In this study we investigated the molecular bases of the beta-thalassemia intermedia phenotype in six patients belonging to two unrelated families of Sardinian descent. Sequence analysis of the beta globin gene from these patients detected, as the so
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5038c0026595703f90b6d39e4d22928e
https://doi.org/10.1002/(sici)1096-8652(199801)57:1<43::aid-ajh7>3.0.co
https://doi.org/10.1002/(sici)1096-8652(199801)57:1<43::aid-ajh7>3.0.co
Autor:
Renzo Galanello, Andrea Mosca, L Perseu, Renata Paleari, G Mulas, L Maccioni, Susanna Barella, E Cocco, Antonio Cao
Publikováno v:
Hemoglobin. 21:17-26
Hb Puttelange [beta 140(H18)Ala-->Val] was found in a 51-year-old Italian man who had mild polycythemia. The variant eluted from ion exchange high performance liquid chromatography at a position between Hb A and Hb A2. It comprised approximately 34%
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::77f01787a8555046b9c8118c13a96cbd
https://doi.org/10.3109/03630269708997507
https://doi.org/10.3109/03630269708997507
Publikováno v:
Thalassemia Reports, Vol 1, Iss 1, Pp e6-e6 (2011)
Thalassemia Reports; Volume 1; Issue 12; Pages: e6
Thalassemia Reports
Volume 1
Issue 1
Thalassemia Reports; Volume 1; Issue 12; Pages: e6
Thalassemia Reports
Volume 1
Issue 1
The clinical manifestations of &beta
thalassemia are extremely heterogeneous, ranging from severe transfusion-dependent anemia, to the mild non transfusion dependent thalassemia intermedia and to the asymptomatic carrier state. The remarkable ph
thalassemia are extremely heterogeneous, ranging from severe transfusion-dependent anemia, to the mild non transfusion dependent thalassemia intermedia and to the asymptomatic carrier state. The remarkable ph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ee2cb1e3174cd0065765bae34ca2e2a
http://www.pagepressjournals.org/index.php/thal/article/view/296
http://www.pagepressjournals.org/index.php/thal/article/view/296
Autor:
S. Piras, Antonio Cao, Renzo Galanello, Giovan Battista Leoni, L Perseu, Maria Dolores Cipollina, Susanna Barella
Publikováno v:
British Journal of Haematology. 115:926-928
Cholelithiasis has been reported with a variable incidence in homozygous beta-thalassaemia, the reasons for which have only partially been defined. Disease-associated factors or specific modifier genes may be implicated. We assessed the prevalence of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c0cb0ef1fc5e26814d98bec48cb2a866
https://doi.org/10.1046/j.1365-2141.2001.03200.x
https://doi.org/10.1046/j.1365-2141.2001.03200.x
Publikováno v:
Blood cells, moleculesdiseases. 45(4)
Pyruvate kinase (PK) deficiency is the most frequent red cell enzymatic defect responsible for hereditary non-spherocytic hemolytic anemia. The clinical picture is quite variable and the reasons of this variability have been only partially clarified.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9139a32cd2592f909773e7bb618e6f06
https://pubmed.ncbi.nlm.nih.gov/20870434
https://pubmed.ncbi.nlm.nih.gov/20870434