Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3076345 | Neurología | 2011 | 7 Pages |
Abstract
Most of the children included in this study suffer a rare disease, and whether they are identified or not, they increasingly require an early diagnosis. Peroxisomal, mitochondrial, lysosomal diseases, carbohydrate glycosylation deficiency syndrome and other inborn error of metabolism, congenital infections and genetic encephalopathies, can be clinically indistinguishable in early life and require specific studies to identify them. Early diagnosis requires strategies using step-wise systematic studies, giving priority to those diseases that could be treated, and in many cases using an individualised approach. We believe that the potential benefits of early diagnosis, including savings on further studies, genetic counselling and prenatal diagnosis, overcome the financial costs.
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Authors
J. López Pisón, M.C. GarcÃa Jiménez, M. Lafuente Hidalgo, R. Pérez Delgado, L. Monge Galindo, R. Cabrerizo de Diago, V. Rebage Moisés, J.L. Peña Segura, A. Baldellou Vázquez,