Publications by Claudia Salomone B

Publications by authors named "Claudia Salomone B"

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[Congenital erythropoietic porphyria: case report and management recommendations].

Claudia Salomone B Isabel Ogueta C Carlos Reyes V Gloria Durán S Noemí Aguirre

Arch Argent Pediatr

April 2018

Congenital erythropoietic porphyria is an extremely rare, autosomal recessive, non-acute cutaneous porphyria, caused by uroporphyrinogen III synthase deficiency, codificated by UROS gene on the chromosome 10q26.2. Porphyrins deposit in cornea, bones and teeth.

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