Results 71 to 80 of about 181,707 (268)
Enfermedades: raras, un verdadero reto
Acta Médica Costarricense, 2020 En estos días se ha dado a conocer en la prensa nacional el caso de unas pacientes con enfermedad de Pompe y la necesidad que tienen que la CCSS, les provea un medicamento que supuestamente puede paliar dicha patología. El medicamento no solo es caro, sino que su eficacia no está completamente demostrada, según la publicación periodística.
openaire +2 more sources
Andrology, EarlyView.ABSTRACT Background The Testicular Cancer Consortium (TECAC) was established in 2012 and is comprised of researchers from over 25 centers in Europe and North America. TECAC's overarching goal is to investigate the genetic susceptibility of testicular germ cell tumors (TGCT) to better understand their biology, impact prevention strategies, and inform ...
Peter A. Kanetsky +28 more
wiley +1 more source
Homocysteine treatment alters redox capacity of both endothelial and tumor cells [PDF]
, 2015 Homocysteine is a non-proteinogenic amino acid playing key roles in two interconnected metabolic pathways, namely, the activated methyl cycle and the linear trans-sulfuration pathway that allows the conversion of methionine to cysteine.
Cárdenas, Casimiro +5 more
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Tamizaje neonatal y enfermedades raras. Del test de Guthrie a la espectrometría de masas
Pediatria, 2021 Antecedentes: el tamizaje neonatal comienza con la Fenilcetonuria, la primera enfermedad metabólica en ser detectada mediante el test de Guthrie, un ensayo de inhibición bacteriana.
A. Bermúdez +3 more
semanticscholar +1 more source
Brain Pathology, EarlyView.A single amino acid change (L108I) combined with PrP overexpression drives spontaneous atypical prion formation in mice, enabling also efficient propagation of diverse prion strains. This model allows studying how spontaneous prion diseases arise and provides powerful tools for investigating strain emergence, transmission barriers, and mechanisms ...
Hasier Eraña +20 more
wiley +1 more source
Scientific Reports, 2021 Parkinson’s disease (PD) is characterized by cerebral dopamine depletion that causes motor and cognitive deficits. The dopamine-related gene ANKK1 has been associated with neuropsychiatric disorders with a dopaminergic deficiency in the striatum.
Estela Pérez-Santamarina +8 more
doaj +1 more source
Lactate Oxidation in Endothelial Cells: A Feature of All Endothelial Cells? [PDF]
, 2019 Resumen de la comunicaciónMetabolism of endothelial cells is a topic that has gained an increasing interest in the last years. This is due to their role in the angiogenic process, which is pathologically upregulated in several diseases, such as ...
Martínez-Poveda, Beatriz +3 more
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Actas del VI VI Summer Course en ARS y VI Workshop de investigación: ARS y SALUD. Villafraca del Bierzo, León (España), 2021 Durante el Día Mundial de las Enfermedades Raras se recogieron las interacciones realizadas en la red social Twitter relacionadas con este acontecimiento.
Marta Martínez Martínez +3 more
semanticscholar +1 more source
Brain Pathology, EarlyView.Untargeted multiomic profiling of cerebrospinal fluid reveals that proteomic, but not lipidomic, signatures robustly distinguish ALS patients from controls and stratify individuals by survival, highlighting marked molecular differences between short survival and long survival disease.
Sergio Roca‐Pereira +19 more
wiley +1 more source
Conservation Biology, EarlyView.Abstract Monitoring wildlife health is essential for conservation and management, wildlife and livestock welfare, and public health in a One Health framework. Yet, wildlife health monitoring often requires long‐term fieldwork and intensive sampling, which can be costly or logistically challenging, especially for remote, rare, or elusive populations. To
Jonathan Tichon +8 more
wiley +1 more source