Article
Molecular characterization of porphyrias in Italy: a diagnostic flow-chart.
Cellular and molecular biology (Noisy-le-Grand, France) - 1 Dec 2002
Martinez di Montemuros F, Di Pierro E, Patti E, Tavazzi D, Danielli M G, Biolcati G, Rocchi E, Cappellini M D
Abstract excerpt
The porphyrias are disorders associated with inherited or acquired enzyme deficiencies in the heme biosynthetic pathway. The differential diagnosis is often difficult since the phenotype is very similar in some forms and the biochemical tests are not commonly available. Here we provide an update on the molecular diagnosis of porphyrias in Italy and a flow-chart to facilitate the identification of mutations in...
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