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The european hematology association roadmap for european hematology research: a consensus document
(Ferrata Storti Foundation, 2016)
The European Hematology Association (EHA) Roadmap for European Hematology Research highlights major achievements in diagnosis and treatment of blood disorders and identifies the greatest unmet clinical ...
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 ...
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 ...
Inspiratory and expiratory muscle training in subacute stroke: a randomized clinical trial
(American Academy of Neurology, 2015)
Objective: To assess the effectiveness, feasibility, and safety of short-term inspiratory and expiratory muscle training (IEMT) in subacute stroke patients. Methods: Within 2 weeks of stroke onset, 109 ...
Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype
(Springer Nature, 2018)
Although guidelines are available for hereditary hemochromatosis, a high percentage of the recommendations within them are not shared between the different guidelines. Our main aim is to provide an ...
Nontherapeutic international normalized ratio results in hospital emergency patients on vitamin K antagonists: prevalence and associated factors
(Sociedad Española de Medicina de Urgencias y Emergencias, 2017)
Aims. To determine the prevalence of international normalized ratio (INR) findings outside the normal range in hospital emergency department patients on vitamin K antagonists (VKAs). To identify factors ...
Opinión de los responsables de los servicios de urgencias hospitalarios de Cataluña acerca de la creación de la especialidad de Medicina de Urgencias y Emergencias
(Sociedad Española de Medicina de Urgencias y Emergencias, 2015)
Objetivo. Conocer la opinión de los responsables de los servicios de urgencias hospitalarios (SUH) de Cataluña respecto al soporte e impacto que tendría la creación de la especialidad primaria de Medicina ...
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)