Results 41 to 50 of about 168,335 (155)

PB1969 CYP2D6 ALLELIC CHARACTERIZATION ON SPANISH TYPE 1 GAUCHER DISEASE PATIENTS

HemaSphere, Volume 3, Issue S1, Page 894-895, June 2019., 2019
Background: Cytochrome p450 is the main drug metabolic pathway mostly by CYPIIIA4 and CYPIID6 enzymes. The second one is the responsible for the clearance from 20% of most common drugs as paracetamol or codeine and presented four different metabolizer phenotype: normal metabolizer (NM), intermediate metabolizer (IM), poor metabolizer (PM) or ultra ...
L. López de Frutos, P. Alfonso, C. Lahoz, P. Irún, P. Giraldo   +4 more
wiley   +1 more source

PB1970 AUOTOIMMUNE HEMOLITIC ANEMIA (AIHA) IN CHILDHOOD. IS PRIMARY IMMUNE DISORDERS MORE OFTEN THAN EXPECTED IN ETIOLOGY OF SECONDARY AIHA

HemaSphere, Volume 3, Issue S1, Page 895, June 2019., 2019
Background: Auotoimmune hemolitic anemia (AIHA) results from redcell destruction due to circulating antibodies against redcell membrane antigens. They are classified etiologically into primary and secondary such as primary immune disorders (PID), infectious disease and connective tissue disorders (CTD).
T. Patiroglu, O. Alper, M. Cansever, E. Unal, E. Yilmaz, M. Karakukcu   +5 more
wiley   +1 more source

Enfermedad de Gaucher en Argentina: un informe del Registro Internacional de Gaucher y del Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad de Gaucher

, 2013
Fil: Cuello, María Fernanda. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de la Plata; Argentina.
Drelichman, G., Fernández Escobar, Nicolás, Basack, Nora, Kohan, R., Watman, N., Bolesina, M., Elena, G., Veber, S. E., Dragosky, M., Annetta, I., Feliu, A., Sciuccati, Gabriela, Cuello, María Fernanda, Fynn, Alcira, Dodelson de Kremer, Raquel, Angaroni, Celia Juana, Giner Ayala, Alicia, Del Valle Oller, Ana María, Guelbert, Norberto Bernardo, Delgado, María Andrea, Becerra, Adriana Berónica, Oliveri, María Beatriz, Larroudé, M., Masllorens, F., Szlago, M., Schenone, A.   +25 more
openaire   +4 more sources

Abstract Book for the 27th Congress of the European Hematology Association

, 2022
HemaSphere, Volume 6, Issue S3, Page 1-4130, June 2022.
wiley   +1 more source

PB1971 STEPWISE APPROACH TO UNDIAGNOSED ANEMIA IN CHILDREN: A MODEL FOR LIMITED RESOURCES SETTINGS

HemaSphere, Volume 3, Issue S1, Page 895, June 2019., 2019
Background: Undiagnosed inherited anemia is a unique clinical entity in tertiary hematology centers. Reaching confirmed diagnosis is challenging and requires series of complex expensive investigations.The high prevalence of iron deficiency and thalassemia carriers makes the diagnosis of other classes of anemia more challenging.
M. Elalfy, S. Elhabashy, I. Ragab, N. Mowafy, M. Sallam, R. Russo, A. Iolascon, N. Hussein   +7 more
wiley   +1 more source

Abstracts

, 2021
Research and Practice in Thrombosis and Haemostasis, Volume 5, Issue S2, October 2021.
wiley   +1 more source

PB1972 RIBOCICLIB INDUCES MACROCYTOSIS IN THERAPEUTIC DOSES: CHARACTERIZATION OF OUTCOME

HemaSphere, Volume 3, Issue S1, Page 895-896, June 2019., 2019
Background: Ribociclib is a small molecule that selectively inhibits cyclin‐dependent kinases 4 and 6, blocking the phosphorylation of retinoblastoma protein and inducing of G1 phase arrest hence having an important role in the regulation and prevention of cell‐cycle progression.
S. Alves, S. Alves
wiley   +1 more source

Histopathological findings in renal biopsies in Anderson–Fabry disease. Case series

Revista Médica del Hospital General de México, 2018
Anderson–Fabry disease is the second most common lysosomal storage disease after Gaucher disease. It is an X-linked lysosomal disorder that causes a deficiency in alpha-galactosidase, leading to the accumulation of globotriaosylceramide (Gb3) in the ...
A.L. Mena Rodríguez, M.V. Soto Abraham, M.Y. Valdespino Vázquez, B. de León Garza   +3 more
doaj   +1 more source

Exploring a De Novo Route to Bradyrhizose: Synthesis and Isomeric Equilibrium of Bradyrhizose Diastereomers≠

Chemistry – A European Journal, Volume 30, Issue 33, June 12, 2024.
A de novo approach to synthesize d‐bradyrhizose diastereomers from an achiral ketoenolester is presented. The strategy uses transfer hydrogenation, an Achmatowicz rearrangement and alkene oxidations as key steps in the synthesis. The effect of the configuration at C‐2, C‐4 and C‐9 on the isomeric composition of the reducing sugars in water was analyzed
Vitor L. S. Cunha, George A. O'Doherty, Todd L. Lowary   +2 more
wiley   +1 more source

Enfermedad de Gaucher [PDF]

, 2014
Enfermedades Raras en Asturias. Dirección General de Salud Pública y Participación.
Paredes, Lucía, López, J.A. (Juan)
openaire   +1 more source