Search Results - "PUJADES, A"

Increased susceptibility of microcytic red blood cells to in vitro oxidative stress by Vives Corrons, J L, Miguel-García, A, Pujades, M A, Miguel-Sosa, A, Cambiazzo, S, Linares, M, Dibarrart, M T, Calvo, M A

“…Oxidative damage to erythrocytes in thalassaemia has been related to generation of free radicals by an excess of denaturated alpha- or beta-globin chains,…”
Get more information

Molecular characterization of the PK‐LR gene in pyruvate kinase deficient Spanish patients by ZARZA, R, ALVAREZ, R, LUNGMUS, G. P, BUREO, E, VIVES CORRONS, J. L, PUJADES, A, NOMDEDEU, B, CARRERA, A, ESTELLA, J, REMACHA, A, SANCHEZ, J. M, MOREY, M, CORTES, T

“…The PK‐LR gene has been studied in 12 unrelated patients with red cell pyruvate kinase deficiency and hereditary nonspherocytic haemolytic anaemia (CNSHA). The…”
Get full text

Analysis of the clinical relevance of the breakpoint location within M-BCR and the type of chimeric mRNA in chronic myelogenous leukemia by Rozman, C, Urbano-Ispizua, A, Cervantes, F, Rozman, M, Colomer, D, Féliz, P, Pujades, A, Vives Corrons, J L

“…It has been suggested that the breakpoint location within the M-BCR segment of chromosome 22 and the type of chimeric mRNA BCR/ABL (b2a2 or b3a2) are…”
Get more information

Two new mutations of the glucose-6-phosphate dehydrogenase (G6PD) gene associated with haemolytic anaemia : clinical, biochemical and molecular relationships by ZARZA, R, PUJADES, A, ROVIRA, A, SAAVEDRA, R, FERNANDEZ, J, AYMERICH, M, VIVES CORRONS, J. L

“…In two unrelated Spanish males with glucose-6-phosphate dehydrogenase (G6PD) deficiency and haemolytic anaemia, and two different novel point mutations in the…”
Get full text

Molecular genetics of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Spain: identification of two new point mutations in the G6PD gene by Rovira, A, Vulliamy, T, Pujades, M A, Luzzatto, L, Corrons, J L

“…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…”
Get more information

Haemoglobin Lleida: a new alpha 2-globin variant (12 bp deletion) with mild thalassaemic phenotype by Ayala, S, Colomer, D, Pujades, A, Aymerich, M, Vives Corrons, J L

“…Molecular studies of alpha-thalassaemias have revealed defects at different steps in the process of alpha-gene expression. It is not surprising, therefore,…”
Get more information

Congenital 6‐phosphogluconate dehydrogenase (6PGD) deficiency associated with chronic hemolytic anemia in a Spanish family by Corrons, J. Ll. Vives, Colomer, D., Pujades, A., Rovira, A., Aymerich, M., Merino, A., Bascompte, J. Ll. Aguilar i

“…Clinical and metabolic studies were performed in four members of a Spanish family with partial (50%) 6 phosphogluconate dehydrogenase (6PGD) deficiency. In all…”
Get full text

Nondeletional α‐thalassemia: First description of αHphα and αNcoα mutations in a Spanish population by Ayala, S., Colomer, D., Aymerich, M., Pujades, A., Vives‐Corrons, J. Ll

“…Several different deletions underlie the molecular basis of α‐thalassemia. The most common α‐thalassemia determinant in Spain is the rightward deletion…”
Get full text

Heterogeneity of "Mediterranean type" glucose-6-phosphate dehydrogenase (G6PD) deficiency in Spain and description of two new variants associated with favism by Vives Corrons, J L, Pujades, A

“…Glucose-6-phosphate dehydrogenase (G6PD); EC 1.1.1.49 from thirty-six unrelated Spanish males was partially purified from blood, and the variants were…”
Get full text

Variante facial del síndrome de Guillain-Barré en un paciente, días después de vacunarse de la gripe A by Marzo Sola, M.E, Vaquero Garrido, M, Bártulos Iglesias, M, Gil Pujades, Á

Get full text

Erythrocyte fructose 2,6-bisphosphate content in congenital hemolytic anemias by Colomer, D, Pujades, A, Carballo, E, Vives Corrons, J L

“…We have investigated the levels of fructose 2,6-bisphosphate and its synthesizing enzyme 6-phosphofructo-2-kinase in red blood cells from different congenital…”
Get more information

Heterozygous pyruvate kinase deficiency and severe hemolytic anemia in a pregnant woman with concomitant, glucose-6-phosphate dehydrogenase deficiency by VIVES CORRONS, J.-L, MIGUEL GARCIA, A, MIGUEL SOSA, A, PUJADES, A, COLOMER, D, LINARES, M

“…The aim of this paper is to describe the clinical and hematological characteristics of a 32-year-old woman with concomitant heterozygous pyruvate kinase (PK)…”
Get full text

Relationship between lymphocyte size and enzyme activities in two morphological variants of B-chronic lymphocytic leukaemia by Vives Corrons, J L, Colomer, D, Pujades, A, Matutes, E, Pastor, C, Aymerich, M

“…The activities of the key glycolytic enzymes phosphofructokinase (PFK), pyruvate kinase (PK) and hexokinase in addition to adenosine deaminase, purine…”
Get more information

Facial variant of Guillain-Barré Syndrome in a patient, days after being vaccinated for influenza A by Marzo Sola, M.E., Vaquero Garrido, M., Bártulos Iglesias, M., Gil Pujades, A.

Get full text

Chronic nonspherocytic hemolytic anemia (CNSHA) and glucose 6 phosphate dehydrogenase (G6PD) deficiency in a patient with familial amyloidotic polyneuropathy (FAP): molecular study of a new variant (G6PD Clinic) with markedly acidic pH optimum by VIVES-CORRONS, J. L, PUJADES, M. A, PETIT, J, COLOMER, D, CORBELLA, M, AGUILAR I BASCOMPTE, J. L, MERINO, A

“…A new glucose-6-phosphate dehydrogenase (G6PD) variant with severe erythrocytic G6PD deficiency and a unique pH optimum is described in a young patient with…”
Get full text

Molecular genetics of the glucose-6-phosphate dehydrogenase (G6PD) mediterranean variant and description of a new G6PD mutant, G6PD andalus by VIVES-CORRONS, J.-L, KUHL, W, PUJADES, M. A, BEUTLER, E

Get full text

Molecular genetics of the glucose-6-phosphate dehydrogenase (G6PD) Mediterranean variant and description of a new G6PD mutant, G6PD Andalus1361A by Vives-Corrons, J L, Kuhl, W, Pujades, M A, Beutler, E

“…Glucose-6-phosphate dehydrogenase (G6PD; E.C.1.1.1.49) deficiency is the most common human enzymopathy; more than 300 different biochemical variants of the…”
Get full text

Rapid detection of Spanish (δβ)°-thalassemia deletion by polymerase chain reaction by VIVES-CORRONS, J. L, PUJADES, M. A, MIGUEL-GARCIA, A, MIGUEL-SOSA, A, CAMBIAZZO, S

Get full text

Combined study of lymphocyte phosphoglucomutase (PGM) and adenylate kinase (AK) isoenzymes in the early characterization of bone marrow engraftment by Vives Corrons, J L, Merino, A, Pujades, A, Grañena, A, Carreras, E, Marín, P, Rozman, C

“…A starch-gel electrophoretic study of 2 peripheral blood lymphocyte enzymes, phosphoglucomutase (PGM) and adenylate kinase (AK), was performed in 25…”
Get more information

Alpha128 Arg-->Ser (CGT-->AGT) spectrin mutation associated with severe neonatal elliptopoikilocytosis in Spain by Corrons, J L, Pujades, A, Alvarez, R, Estella, J, Dhermy, D

Get full text