Affiliation:
1. Department of Chemical Pathology, Adelaide Children's Hospital, South Australia
Abstract
Abstract
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.
Publisher
Oxford University Press (OUP)
Subject
Biochemistry, medical,Clinical Biochemistry
Cited by
15 articles.
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1. Porphyrias: Uncommon disorders masquerading as common childhood diseases;Journal of Postgraduate Medicine;2023
2. The acute porphyrias;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020
3. The Porphyrias;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2015
4. Porphyrias;Harper's Textbook of Pediatric Dermatology;2011-05-24
5. Porphyrins and the Porphyrias;Clinical Biochemistry of Domestic Animals;2008