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The Clinical Diagnosis of Porphyrias by Tandem Mass Spectrometry
Heme, a tetrapyrrole ringed molecule essential for life, is synthesized by the body in an eight-step, enzyme-assisted pathway. Each step is catalyzed by an enzyme; a genetic deficiency in any of the last seven of these enzymes is classified as a type of the family of diseases called the porphyrias. Tandem mass spectrometry, ...