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The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2
(Ferrata Storti Foundation, 2018)
variants have previously been described in patients with myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2). encodes the mitochondrial tyrosyl-tRNA synthetase, which is responsible for ...
Iron-regulatory proteins limit hypoxia-inducible factor 2α expression in iron deficiency
(Springer Nature, 2007)
Hypoxia stimulates erythropoiesis, the major iron-utilization pathway. We report the discovery of a conserved, functional iron-responsive element (IRE) in the 5′ untranslated region of the messenger RNA ...
SUHCAT study, part 5: comparison of staff and chiefs' perceptions of emergency department quality in Catalonia
(Sociedad Española de Medicina de Urgencias y Emergencias, 2018)
An Hfe-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice
(Springer Nature, 2004)
Inflammation influences iron balance in the whole organism. A common clinical manifestation of these changes is anemia of chronic disease (ACD; also called anemia of inflammation). Inflammation reduces ...
The effectiveness of extracorporeal shock wave therapy for improving upper limb spasticity and functionality in stroke patients: a systematic review and meta-analysis
(SAGE Publications, 2020)
Objective: To assess the effectiveness of Extracorporeal Shock Wave Therapy for reducing spasticity and improving functionality of the upper limb in stroke survivors. Data sources: A systematic review ...
Interlimb asymmetries in youth tennis players: relationships with performance
(Wolters Kluwer, 2020)
Madruga-Parera, M, Bishop, C, Fort-Vanmeerhaeghe, A, Beltran-Valls, MR, Gonzalo-Skok, O, and Romero-Rodríguez, D. Interlimb asymmetries in youth tennis players: relationships with performance. J Strength ...
Functional and clinical impact of novel Tmprss6 variants in iron-refractory iron-deficiency anemia patients and genotype–phenotype studies
(Wiley, 2014)
Iron-refractory iron-deficiency anemia (IRIDA) is a rare autosomal-recessive disorder characterized by hypochromic microcytic anemia, low transferrin saturation, and inappropriate high levels of the ...
Iron refractory iron deficiency anemia
(Ferrata-Storti Foundation, 2013)
Iron refractory iron deficiency anemia is a hereditary recessive anemia due to a defect in the TMPRSS6In vitro gene encoding Matriptase-2. This protein is a transmembrane serine protease that plays an ...
Post-activation performance enhancement after inclusion of opponent versus no opponent during isoinertial crossover step exercise: a randomized crossover trial
(SAGE Publications, 2021)
This study sought to determine whether the inclusion of an opponent on an isoinertial crossover step task influenced the post-activation response and power production. Twenty adult male team-sports ...
Enhancing perceived leadership of nursing students through a student-led dedicated education unit in a community setting: a feasibility study
(Elsevier, 2022)
Background: Leadership competence is important to ensure the provision of safe and high-quality care in hospitals. Purpose: The aim was to demonstrate the feasibility of enhancing the perceived leadership ...