Results 11 to 20 of about 1,488 (116)

Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher’s disease

Journal of Orthopaedic Surgery and Research, 2019
Background Chronic fatigue (CFg) is a prevalent symptom in Gaucher disease (GD) at diagnosis (79%) and remains in a quarter of patients after years of therapy.
Mercedes Roca-Espiau, Marcio Andrade-Campos, Jorge J. Cebolla, Laura López de Frutos, Blanca Medrano-Engay, Maria-Pilar López-Royo, Pilar Giraldo   +6 more
doaj   +1 more source

Memoria Académica 2014-2015 [PDF]

, 2015
El CABD es un centro mixto de investigación. Actualmente, el centro lo ocupan 19 grupos trabajando en desarrollo de ratón, pez cebra, Xenopus, Drosophila y Caenorhabditis, así como estudiando control del ciclo celular en levaduras, regulación génica en
CSIC-JA-UPO - Centro Andaluz de Biología del Desarrollo (CABD)
core   +1 more source

Enfermedad de gaucher

Revista de la Facultad de Medicina Humana, 2018
La enfermedad de Gaucher (EG), enfermedad autosómica recesiva, es la más frecuente del grupo de las enfermedades de depósito lisosomal. Los síntomas y signos son multisistémicos, se establecen de manera crónica y progresiva y se deben a la acumulación de
Magaly Mendoza-Quispe
doaj   +1 more source

Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study

Biomedicines, 2023
This was a retrospective, multicenter study that aimed to report the characteristics of type 3 Gaucher disease (GD3) patients in Spain, including the genotype, phenotype, therapeutic options, and treatment responses.
Sinziana Stanescu, Patricia Correcher Medina, Francisco J. del Castillo, Olga Alonso Luengo, Luis Maria Arto Millan, Amaya Belanger Quintana, Maria Camprodon Gomez, Lydia Diez Langhetée, Oscar Garcia Campos, Ana Matas Garcia, Jimena Perez-Moreno, Barbara Rubio Gribble, Nuria Visa-Reñé, Pilar Giraldo-Castellano, Mar O’Callaghan Gordo   +14 more
doaj   +1 more source

Validez de la prueba de actividad enzimática de la glucocerebrosidasa para el diagnóstico de enfermedad de Gaucher, revisión sistemática

MedUNAB, 2017
Introducción: La enfermedad de Gaucher es un trastorno metabólico por deficiencia o ausencia de enzimaβ-Glucosidasa Ácida. El diagnóstico se sospecha clínicamente, pero requiere confirmación mediante medición, en leucocitos (estándar de oro) o en sangre ...
Vera-Cala, Lina María, Serrano-Gómez, Sergio Eduardo, Cortés, Alexandra, Estrada, Ismael, Gáfaro, Aurora   +4 more
doaj   +1 more source

Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study [PDF]

, 2017
Additional file 1.
Carmen Dominguez, Isabel De Castro-Orós, Jorge Javier Cebolla, María Jesús Pueyo, Miguel Mallén, Miguel Pocoví, null null, Pilar Irún, Pilar Mozas, Victor Rodriguez-Sureda   +9 more
core   +3 more sources

Actualización en el diagnóstico y terapéutica en hipertensión pulmonar arterial [PDF]

, 2006
Indexación: ScieloResumen: Pulmonary Arterial Hypertension includes a heterogeneous group of disorders with a common genetic, pathological and hemodinamyc origin.
Uriarte G., Polentzi, Wainstein G., Eduardo, Zagolin B., Mónica   +2 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

Neutrophil extracellular traps and macrophage activation contibute to thrombosis and post-covid syndrome in SARS-CoV-2 infection

Frontiers in Immunology
BackgroundSARS-CoV-2 infection activates macrophages and induces the release of neutrophil extracellular traps (NETs). Excess NETs is linked to inflammatory and thrombotic complications observed in COVID-19.AimTo explore the impact of NETs and macrophage
Irene Serrano-Gonzalo, Irene Serrano-Gonzalo, Irene Serrano-Gonzalo, Irene Serrano-Gonzalo, Bárbara Menéndez-Jandula, Esther Franco-García, Esther Franco-García, Esther Franco-García, Isidro Arévalo-Vargas, Isidro Arévalo-Vargas, Isidro Arévalo-Vargas, Calos Lahoz-Gil, Paz Latre, Paz Latre, Sonia Roca-Esteve, Ralf Köhler, Ralf Köhler, Ralf Köhler, Laura López de Frutos, Laura López de Frutos, Pilar Giraldo, Pilar Giraldo, Pilar Giraldo, Pilar Giraldo, Pilar Giraldo   +24 more
doaj   +1 more source