Výsledky vyhledávání

Akademický článek

Concomitant Hereditary Spherocytosis and Pyruvate Kinase Deficiency in a Spanish Family with Chronic Hemolytic Anemia: Contribution of Laser Ektacytometry to Clinical Diagnosis.

Autor: Vives Corrons JL; Red Cell Pathology and Hematopoietic Disorders, Institute for Leukaemia Research Josep Carreras, 08916 Badalona, Spain., Krishnevskaya E; Red Cell Pathology and Hematopoietic Disorders, Institute for Leukaemia Research Josep Carreras, 08916 Badalona, Spain., Montllor L; Red Cell Pathology and Hematopoietic Disorders, Institute for Leukaemia Research Josep Carreras, 08916 Badalona, Spain., Leguizamon V; Red Cell Pathology and Hematopoietic Disorders, Institute for Leukaemia Research Josep Carreras, 08916 Badalona, Spain., Garcia Bernal M; Pediatric Hematology Department, University Hospital Mútua Terrassa Terrassa, 08221 Barcelona, Spain.

Publikováno v: Cells [Cells] 2022 Mar 28; Vol. 11 (7). Date of Electronic Publication: 2022 Mar 28.

Zobrazit plný text záznamu

Akademický článek

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Akademický článek

PB2248: CONCOMITANT HEREDITARY SPHEROCYTOSIS AND PYRUVATE KINASE DEFICIENCY IN A SPANISH FAMILY WITH CHRONIC HEMOLYTIC ANEMIA. CONTRIBUTION OF LASER EKTACYTOMETRY TO CLINICAL DIAGNOSIS.

Autor: Vives Corrons, J.‐L., Krishnevskaya, E., Montllor, L., Leguizamón, V., Garcia Bernal, M.

Publikováno v: HemaSphere; 2022 Supplement 3, Vol. 6, p2118-2119, 2p

Zobrazit plný text záznamu

Akademický článek

P1551: CONFORMATIONAL STUDY OF PYRUVATE KINASE DEFICIENT VARIANTS WITH HEMOLYTIC ANEMIA. THE RELATIONSHIPS BETWEEN THE LOSS OF ENZYME FUNCTION AND STRUCTURAL DISRUPTION.

Autor: Jorda, L., Montllor, L., Krisnevskaya, E., Leguizamón, V., Hernandez, I., Gelpi, J. L., Vives Corrons, J.‐L.

Publikováno v: HemaSphere; 2022 Supplement 3, Vol. 6, p1432-1433, 2p

Zobrazit plný text záznamu

Akademický článek

Red cell pyruvate kinase deficiency in Spain: A study of 15 cases.

Autor: Montllor L; Unidad de Eritropatología, Hospital Clínic de Barcelona, Institut D'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, España., Mañú-Pereira MD; Unidad de Eritropatología, Hospital Clínic de Barcelona, Institut D'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, España. Electronic address: mdmanu@clinic.cat., Llaudet-Planas E; Unidad de Eritropatología, Hospital Clínic de Barcelona, Institut D'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, España., Gómez Ramírez P; Unidad de Eritropatología, Hospital Clínic de Barcelona, Institut D'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, España., Sevilla Navarro J; Servicio de Hematología y Hemoterapia, Hospital Infantil Universitario Niño Jesús, Madrid, España., Vives-Corrons JL; Unidad de Eritropatología, Hospital Clínic de Barcelona, Institut D'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, España.

Publikováno v: Medicina clinica [Med Clin (Barc)] 2017 Jan 06; Vol. 148 (1), pp. 23-27. Date of Electronic Publication: 2016 Nov 19.

Zobrazit plný text záznamu

Report

Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation.

Autor: Mañú-Pereira Mdel M; Red Cell Pathology Unit, Hospital Clínic, IDIBAPS, University of Barcelona, Spain., Gonzalez-Roca E; Immunology Department, Hospital Clínic, IDIBAPS, Barcelona, Spain., van Solinge WW; Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht, the Netherlands., Llaudet-Planas E; Red Cell Pathology Unit, Hospital Clínic, IDIBAPS, University of Barcelona, Spain., Sevilla J; Department of Pediatrics, Hospital Niño Jesús, Madrid, Spain., Montllor L; Red Cell Pathology Unit, Hospital Clínic, IDIBAPS, University of Barcelona, Spain., Mensa-Vilaro A; Immunology Department, Hospital Clínic, IDIBAPS, Barcelona, Spain., Ploos van Amstel HK; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Wijk R; Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht, the Netherlands., Vives-Corrons J; Red Cell Pathology Unit, Hospital Clínic, IDIBAPS, University of Barcelona, Spain.

Publikováno v: American journal of hematology [Am J Hematol] 2015 Dec; Vol. 90 (12), pp. E217-9. Date of Electronic Publication: 2015 Nov 17.

Zobrazit plný text záznamu

Akademický článek

Five Years' Experience with Gene Panel Sequencing in Hereditary Hemolytic Anemia Screened by Routine Peripheral Blood Smear Examination.

Autor: Kim, Namsu¹ (AUTHOR), Kim, Tae Yun² (AUTHOR), Han, Ji Yoon³ (AUTHOR) han024@catholic.ac.kr, Park, Joonhong^1,4 (AUTHOR) han024@catholic.ac.kr

Publikováno v: Diagnostics (2075-4418). Feb2023, Vol. 13 Issue 4, p770. 11p.

Zobrazit plný text záznamu

Plný text ve formátu HTML

Vyhledávací nástroje:

Upřesnit hledání