
handle: 11427/3398
Variegate porphyria (VP) is the clinical disorder associated with a deficiency of the haemsynthesising enzyme protoporphyrinogen oxidase (PPO). VP is one of the commonest monogenic inherited disorders in South Africa. The clinical effects include photocutaneous sensitivity and the development of potentially life-threatening acute porphyric crises. Section 1 of this dissertation examines the molecular basis for VP in South Africa.
Bibliography: p. 215-241.
Medicine
Medicine
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