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Clinical Chemistry 39: 1334-1340, 1993;
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Clinical Chemistry, Vol 39, 1334-1340, Copyright © 1993 by American Association for Clinical Chemistry

Childhood porphyrias: implications and treatments

NR Badcock, DA O'Reilly, GD Zoanetti, EF Robertson and CJ Parker
Department of Chemical Pathology, Adelaide Children's Hospital, South Australia.

In describing the clinical, biochemical, and family findings in five children with porphyria, we examine initial treatments and, where appropriate, the effectiveness of long-term therapy. We note that porphyria diagnosis, particularly in childhood, relies heavily on specialist laboratory investigations. Because disease expression in some porphyrias requires exposure to precipitating factors, it may be prevented or delayed by their avoidance.




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Copyright © 1993 by the American Association for Clinical Chemistry.