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8.685  Articles
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Inherited platelet function disorders (IPFD) comprise a heterogeneous group of diseases. Their real frequency is probably underestimated as in many patients with excessive subcutaneous and mucosal bleedings the disorder has not been recognized. The presen... see more

Genomic research of hereditary diseases is highly significant in the development of specific diagnostic markers meant to identify dogs carrying gene mutations. The Online Mendelian Inheritance in Animals database shows that there are 324 Mendelian disorde... see more

Along with haemophilia A and B, von Willebrand disease (VWD) and rare bleeding disorders (RBDs) cover all inherited bleeding disorders of coagulation. Bleeding tendency, which can range from extremely severe to mild, is the common symptom. VWD, due to a d... see more

Oxidative stress arises when cellular antioxidant defences become overwhelmed by a surplus generation of reactive oxygen species (ROS). Once this occurs, many cellular biomolecules such as DNA, lipids, and proteins become susceptible to free radical-induc... see more

Metal storage disorders (MSDs) are a set of rare inherited conditions with variable clinical pictures including neurological dysfunction. The objective of this study was, through a systematic review, to identify the prevalence of Parkinsonism in patients ... see more

Neuromuscular disorders are a heterogeneous group of acquired or hereditary conditions that affect striated muscle function. The resulting decrease in muscle strength and motility irreversibly impacts quality of life. In addition to directly affecting ske... see more

Objective: This study was done to determine the factors responsible for non-treatment of inherited metabolic disorders (IMDs) requiring food for special medical purposes (FSMPs) in Pakistan.Methods: A descriptive cross-sectional study was conducted by Dep... see more

Thromboembolic conditions are the leading cause of mortality, estimated to account for 1 in 4 deaths worldwide in 2010. Over time, the incidence and mortality rates of these conditions have improved in developed countries, but are increasing in developing... see more

Thromboembolic conditions are a leading cause of mortality, estimated to account for 1 in 4 deaths worldwide in 2010. Over time, the incidence and mortality rates of these conditions have declined in developed countries, but are increasing in developing c... see more

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