Results 201 to 210 of about 134,584 (262)
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Hematology/Oncology Clinics of North America, 2021
Bleeding disorders due to platelet dysfunction are a common hematologic complication affecting patients, and typically present with mucocutaneous bleeding or hemorrhage. An inherited platelet disorder should be suspected in individuals with a suggestive family history and no identified secondary causes of bleeding.
Frederick D, Tsai +1 more
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Bleeding disorders due to platelet dysfunction are a common hematologic complication affecting patients, and typically present with mucocutaneous bleeding or hemorrhage. An inherited platelet disorder should be suspected in individuals with a suggestive family history and no identified secondary causes of bleeding.
Frederick D, Tsai +1 more
openaire +2 more sources
Clinica Chimica Acta, 2008
Inherited platelet disorders are a rare, but probably underdiagnosed, cause of symptomatic bleeding. They are characterized by abnormalities of platelet number (inherited thrombocytopenias), function (inherited disorders of platelet function) or both.
M. Franchini +5 more
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Inherited platelet disorders are a rare, but probably underdiagnosed, cause of symptomatic bleeding. They are characterized by abnormalities of platelet number (inherited thrombocytopenias), function (inherited disorders of platelet function) or both.
M. Franchini +5 more
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Inherited disorders of cytokines
Current Opinion in Pediatrics, 2004Cytokines are soluble mediators involved in the development or function of the immune system. This paper reviews the literature on childhood-onset inherited disorders associated with impaired cytokine-mediated immunity.Cytokine-mediated immunity defects can be classified into seven different groups: defects in the interleukin (IL)-7 receptor (IL7RA ...
Capucine, Picard, Jean-Laurent, Casanova
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Inherited desmosomal disorders
Cell and Tissue Research, 2014Desmosomes serve as intercellular junctions in various tissues including the skin and the heart where they play a crucial role in cell-cell adhesion, signalling and differentiation. The desmosomes connect the cell surface to the keratin cytoskeleton and are composed of a transmembranal part consisting mainly of desmosomal cadherins, armadillo proteins ...
Liat, Samuelov, Eli, Sprecher
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Inherited disorders of complement
Journal of the American Academy of Dermatology, 1983Isolated complement component deficiencies are uncommon. Deficiencies of all eleven components and two inhibitors of the classical pathway have been described. Complete absence of the components of the alternative pathway has not been described. The consequences of a single defect in complement are often predictable from an understanding of the ...
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Hospital Practice, 1982
Genetic defects in tubule function, although relatively rare, have served as models for the study of the more common acquired renal tubular disorders. Defects in reabsorption or secretion or in hormone production or action are primarily involved. An exact physiologic mechanism has been delineated for some of them, leading to effective management of the
R A, DeFronzo, S O, Thier
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Genetic defects in tubule function, although relatively rare, have served as models for the study of the more common acquired renal tubular disorders. Defects in reabsorption or secretion or in hormone production or action are primarily involved. An exact physiologic mechanism has been delineated for some of them, leading to effective management of the
R A, DeFronzo, S O, Thier
openaire +2 more sources