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Molecular genetics of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Spain: identification of two new point mutations in the G6PD gene

Autor: Pujades Ma, Lucio Luzzatto, A. Rovira, Tom Vulliamy, J. Ll. Vives

Publikováno v: British Journal of Haematology. 91:66-71

Summary .In order to explore the nature of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Spain, we have analysed the G6PD gene in 11 unrelated Spanish G6PD-deficient males and their relatives by using the polymerase chain reaction and single

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7840ac0fdad93c3cea829eaa2c452b6
https://doi.org/10.1111/j.1365-2141.1995.tb05246.x

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Rapid detection of Spanish (delta beta)zero-thalassemia deletion by polymerase chain reaction

Autor: A Miguel-Sosa, S Cambiazzo, A Miguel-Garcia, JL Vives-Corrons, Pujades Ma

Publikováno v: Blood. 80:1582-1585

delta beta-Thalassemia and hereditary persistence of fetal hemoglobin (HPFH) are inherited disorders characterized by the persistent synthesis of fetal hemoglobin (HbF) during adult life. The Spanish type of delta beta-thalassemia is a mild thalassem

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a934e4af6e59f4526436728d43793a68
https://doi.org/10.1182/blood.v80.6.1582.1582

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Increased susceptibility of microcytic red blood cells to in vitro oxidative stress

Autor: M. T. Dibarrart, Pujades Ma, M. A. Calvo, Mariano Linares, A. Miguel-Garcia, A. Miguel-Sosa, S. Cambiazzo, J. L. Vives Corrons

Publikováno v: European journal of haematology. 55(5)

Oxidative damage to erythrocytes in thalassaemia has been related to generation of free radicals by an excess of denaturated alpha- or beta-globin chains, intracellular iron overload and low concentration of normal haemoglobin (HGB). Two good indicat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4572d95b4ee58821c0cbdbf3556be4f6
https://pubmed.ncbi.nlm.nih.gov/7493680

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Akademický článek

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Akademický článek

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Combined assay of adenosine deaminase, purine nucleoside phosphorylase, and lactate dehydrogenase in the early clinical evaluation of B-chronic lymphocytic leukemia

Autor: Teresa Gallart, Dolors Colomer, Joan Lluis Vives Corrons, Ignacio Anegon, Jordi Vives Puiggrós, Ciril Rozman, Nuria Viñolas, Pujades Ma, Emili Montserrat, Encarna Perez Vila

Publikováno v: Scopus-Elsevier

The levels of adenosine deaminase (ADA), purine nucleoside phosphorylase (PNP), lactic dehydrogenase (LDH), and LDH isoenzyme patterns (LD1 to LD5) have been measured in lymphocyte extract from 28 patients with B-chronic lymphocytic leukemia (B-CLL).

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b63946e6b312f296f237de23b69450f
https://doi.org/10.1002/ajh.2830270302

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Characteristics of red cell pyruvate kinase (PK) and pyrimidine 5'nucleotidase (P5N) abnormalities in acute leukaemia and chronic lymphoid diseases with leukaemic expression

Autor: J. L. Vives Corrons, Pujades Ma, Jorge Sierra, Josep-Maria Ribera

Publikováno v: British Journal of Haematology. 66:173-177

Summary Red cell pyruvate kinase (PK), pyrimidine 5'nucleotidase (P5N) and reduced glutathione content (GSH) were studied in 126 untreated patients with acute leukaemia (AL, 80 cases), chronic lymphocytic leukaemia (B-CLL, 38 cases) and B-cell lympho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dbe35b3e71b143ed88c2e52a0bd515a
https://doi.org/10.1111/j.1365-2141.1987.tb01295.x

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Severe-glucose-6-phosphate dehydrogenase (G6PD) deficiency associated with chronic hemolytic anemia, granulocyte dysfunction, and increased susceptibility to infections: description of a new molecular variant (G6PD Barcelona)

Autor: Jou Jm, MT Vallespi, Cardellach F, FJ Zuazu, A Carreras, Rozman C, Pujades Ma, J. L. Vives Corrons, E. Feliu

Publikováno v: Blood. 59:428-434

Molecular, kinetic, and functional studies were carried out on erythrocytes and leukocytes in a Spanish male with G6PD deficiency, congenital nonspherocytic hemolytic anemia (CNSHA), and increased susceptibility to infections. G6PD activity was absen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c606314cf04770134421087942bfb5e
https://doi.org/10.1182/blood.v59.2.428.bloodjournal592428

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