Authors: V. Bzdúch; D. Behúlová 1; K. Fabríciová; M. Benedeková Authors‘ workplace: I. detská klinika DFNsP, Bratislava, prednostka doc. MUDr. M. Benedeková, CSc. Oddelenie klinickej biochémie DFNsP, Bratislava, 1 vedúca MUDr. A. Kasanická Published in: Čes-slov Pediat 2001; (7): 392-394. Category:
Clinical selection of patients with hereditary metabolic disorders is the basic prerequisite for assessment of the correct diagnosis and early initiation of adequate treatment. At present this is an inevitable task of all paediatricians as well as other specialists in paediatrics. Based on examples of different case-records the authors mention different departments and physicians who contributed by their training towards a correct diagnosis. In treatable disorders, due to rapid therapeutic intervention, the clinical condition improved markedly, in formerly untreatable cases the parents were given the opportunity of prenatal diagnosis during a subsequent pregnancy.
Key words: hereditary metabolic disorders, clinical selection, selective screening, clinical symptoms, paediatrician, prenatal diagnosis
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