[The natural history of syndromes with a metabolic origin].
Notable progress has been recently made in the field of metabolic diseases, particularly for the therapeutic approach, which may be assessed in terms of survival, reproductive capacity and social adaptation. Therapy is often applied at different levels, e.g. the physical appearance, metabolism or only using medical symptomatic therapy. Positive results are expected from the administration of the functional protein, and from a possible treatment directly at the level of the somatic genotype.
Andria
G
G
Dipartimento di Pediatria, IIa Facoltà di Medicina e Chirurgia, Università di Napoli, Italia.
D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D013577:Syndrome