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Current Opinion in Hematology, 2003
Inherited platelet disorders are important causes of bleeding that can quantitatively and qualitatively alter platelets, impairing their function. The purpose of this review is to summarize current knowledge on the different types of inherited platelet disorders, their clinical and laboratory features, molecular genetic causes, and the therapies used ...
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Inherited platelet disorders are important causes of bleeding that can quantitatively and qualitatively alter platelets, impairing their function. The purpose of this review is to summarize current knowledge on the different types of inherited platelet disorders, their clinical and laboratory features, molecular genetic causes, and the therapies used ...
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Gene therapy for inherited disorders
Journal of Pediatric Nursing, 1995With an increase in understanding of the role of genes in disease pathogenesis, gene therapy has become a reality for some disorders and an increased possibility for many others. One type of gene therapy requires only gene addition for treatment. Different methods for gene addition are being tested, based on the cell typology necessary to make the ...
R H, Pickler, C L, Munro
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Treatment of inherited platelet disorders
Haemophilia, 2012Summary. For patients affected by severe inherited platelet dysfunctions, e.g. Glanzmann thrombasthenia (GT) or Bernard‐Soulier syndrome (BSS), platelet transfusion is frequently needed for controlling spontaneous bleeding, and is always needed when trauma occurs or surgery is performed. For the mild‐to‐moderate bleeding entities, e.g.
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Understanding Inherited Disorders
The American Journal of Nursing, 1975LUCILLE S. WHALEY, KATHRYN E. BARNARD
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Inherited ion channel disorders
European Journal of Pediatrics, 2000The inherited ion channel disorders (channelopathies) are a group of disorders caused by mutations in genes encoding ion channels. Ion channel disorders can affect any tissue, but the majority affect skeletal muscle or the central nervous system. These disorders include skeletal muscle sodium channelopathies causing hyperkalaemic periodic paralysis ...
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[Inherited disorders of bilirubin metabolism].
Minerva pediatrica, 2005Jaundice in an infant or older child may reflect accumulation of either unconjugated or conjugated bilirubin and could be related to inherited bilirubin disorders. Three grades of inherited unconjugated hyperbilirubinemia are recognised in humans. This spectrum of disorders is distinguished primarily on the basis of the plasma bilirubin level, the ...
ROSSI, Francesca +7 more
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Diagnostic approach to the patient with a suspected inherited platelet disorder: Who and how to test
Journal of Thrombosis and Haemostasis, 2021, Juliana Perez Botero
exaly