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Hyperargininemia is an autosomal recessive metabolic disorder caused by a deficiency of enzyme arginase I. It is a rare pan-ethnic disease with a clinical presentation distinct from that of other urea cycle disorders, and hyperammonemic encephalopathy is not usually observed. Hyperargininemia is one of the few treatable causes of pediatric spastic(More)
The activities of organizing knowledge recorded in texts and obtaining knowledge from human experts – the knowledge acquisition process – are essential for scientific development. In this article, we propose methodological steps for knowledge acquisition, which have been applied to the construction of biomedical ontologies. The methodologi-cal steps are(More)
In this paper, we introduce a set of methodological steps for knowledge acquisition applied to the organization of biomedical information through ontologies. Those steps are tested in a real case involving Human T Cell Lymphotropic Virus (HTLV), which causes myriad infectious diseases. We hope to contribute to providing suitable knowledge representation of(More)
Acquiring knowledge from experts has been a challenge within several research fields. There is no difference in the scope of Biomedicine, mainly because of the large amount of data. In this paper, we present an underway research being conducted in the domain of hematology, which investigates problems of the knowledge acquisition activity. A list of topics(More)
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