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Short-chain 3-hydroxyacyl-CoA dehydrogenase (HADH, SCHAD) deficiency (OMIM #231530) represents a recently described disorder of mitochondrial fatty acid beta-oxidation, with less than ten cases described worldwide. The main clinical presentation of this metabolic disease is different from other inherited defects of fatty acid β−oxidation as the hypoglycemia(More)
The increasing use of computers daily at school has lead to numerous investigations studying how multimedia educational games are being viewed and used by teachers and students. This work is part of the project Manual Digital II (MD II). The project is financed by Quadro de Referência Estratégico Nacional (QREN), with contract number(More)
Medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is a rare cause of impaired mitochondrial fatty acid oxidation. We present a case report of a patient with hyperinsulinism and homozygosity for a novel mutation causing a kinetic variant of the enzyme. The diagnosis was initially inferred by abnormal newborn screening acylcarnitine analysis(More)
The evolution of digital technologies in all sectors of society, including education, implies a paradigm shift in teaching methods. In Portugal, the new national curriculum for Portuguese language teaching at Elementary School level highlights the role of technologies, considering that these new methods, " require mastery of multiple literacies, namely(More)
Today it is widely recognized that there is a profound change, caused by the digital revolution, in the way we read, in the means of access and in the reproduction of network information. The multiplication of screens and mobile learning allows the construction of innovative teaching models and represents an opportunity and a challenge for the promotion of(More)
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