Congenital erythropoietic porphyria is a rare error of heme metabolism. Derangement of heme metabolism leads to disfiguration, phototoxicity, and the precipitation of ...

BACKGROUND: Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disease caused by the deficient activity of the heme biosynthetic enzyme, uroporphyrinogen III synthase (URO ...

Erythropoietic protoporphyria is a genetic disease in which ferrochelatase is defective. Protoporphyrin accumulates in erythrocytes, leaks into the plasma and results in severe skin photosensitivity.

Conclusions: The results of the present prospective study confirmed the wide inter-individual variability in erythropoietic response to altitude training in elite athletes. However, their ...

However, babies and children can be born with cataracts, or they may develop them as they age. A congenital cataract causes the same symptoms as adult cataracts—a clouding in the lens of the eye that ...

The development of infants with congenital hypothyroidism has been revolutionised with the institution of early and adequate treatment afforded by screening, thereby preventing intellectual impairment ...

Peer ReviewDownload a summary of the editorial decision process including editorial decision letters, reviewer comments and author responses to feedback. Algorithms that constrain metabolic network ...

A RECENT study has examined erythropoietic protoporphyria (EPP), a condition that arises due to a reduction in ferrochelatase activity below 30% of normal, leading to an accumulation of protoporphyrin ...

Diffuse gliomas represent the most common type of primary tumor originating in the central nervous system. Oligodendrocytomas and astrocytomas, corresponding to World Health Organization (WHO) grade ...