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The porphyrias: Clinical and laboratory aspects
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AbstractThe porphyrias, a group of diseases caused by enzyme deficiencies in the heme biosynthetic pathway, are reviewed. The clinical features and pathophysiology of each porphyria are discussed. Analytical techniques used in both screening and definitive investigations are reviewed. The final sections integrate the previous information to provide a protocol to assist in planning the investigation of any particular case of porphyria according to clinical presentation and in interpreting the results of laboratory investigations.
Title: The porphyrias: Clinical and laboratory aspects
Description:
AbstractThe porphyrias, a group of diseases caused by enzyme deficiencies in the heme biosynthetic pathway, are reviewed.
The clinical features and pathophysiology of each porphyria are discussed.
Analytical techniques used in both screening and definitive investigations are reviewed.
The final sections integrate the previous information to provide a protocol to assist in planning the investigation of any particular case of porphyria according to clinical presentation and in interpreting the results of laboratory investigations.
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The porphyrias
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The porphyrias are metabolic diseases caused by altered activities of enzymes in the heme biosynthetic pathway. Signs and symptoms of porphyria result from overproduction and accum...
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The porphyrias
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The porphyrias are metabolic diseases resulting from deficiency, or in one disease, an increase in the activity, of specific enzymes in the haem biosyntheti...
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