Porfilia Aguda Intermitente Fisiopatologia
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1. Acute intermittent porphyria: clinical study of 37 cases. / Porfiria aguda intermitente: estudo clínico de 37 casos.
Acute intermittent porphyria is an autosomal dominant disease, caused by a disturbance in the heme biosynthetic pathway, secondary to the reduction on the levels of uroporphyrinogen-I-synthetase enzyme. Clinical manifestations involve central and peripheral nervous system. The diagnosis is based on the elevated urinary excretion of porphyrins precursors d-am
Publicado em: 2001