Results 31 to 40 of about 61,856,371 (158)

Patología ósea de la enfermedad de Gaucher

Revista de Osteoporosis y Metabolismo Mineral, 2010
López-Herce Cid JA
doaj   +1 more source

21137. ENFERMEDAD DE GAUCHER: MANIFESTACIONES NEUROLÓGICAS A PROPÓSITO DE UN CASO

Neurology Perspectives
B. Villarrubia González, I. González Rodríguez, P. González Feito, A. Ruiz Hernández, J. Barrutia Yovera   +4 more
doaj   +2 more sources

Esplenomegalia como signo de enfermedad lisosomal [PDF]

, 2020
La estructura sana del bazo funciona como función hematopoyética para el período fetal; después, se convierte en un gran órgano linfoide, y también, es del sistema de filtro de células sanguíneas.
García Frade, Luis Javier, Villarubia, J, Campano García, Ana, Ana Ana Campano García Campano García, Luis Javier Luis Javier García Frade García Frade, J J Villarubia Villarubia   +5 more
core   +1 more source

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 Tipo 1. Reporte de caso. Calidad de vida. Tasa de mortalidad. Revisión de la literatura

, 2022
Antecedentes: La enfermedad de Gaucher (EG), fue descrita en 1882 por el médico francés Philippe Charles Ernest Gaucher. El origen es una mutación genética que altera el funcionamiento de la enzima glucocerebrosidasa, ocasionando acumulación de ...
Cardenas Peña, Jonnathan Christian
core   +1 more source

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

Enfermedad de Gaucher

, 2020
Las enfermedades por depósito, representan unamplio espectro clínico de enfermedades. Una delas más frecuentes es la enfermedad de Gaucher,cuyo defecto primordial radica en el almacenamientode glucosilceramida. Su prevalencia es1/100.
Guzmán, Yris, Marín, Haylen, González, Yurilu   +2 more
core   +1 more source

Abstracts

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