Physicians should be aware of porphyrias, which could be responsible for unexplained
gastrointestinal, neurologic, or skin disorders. Despite their relative rarity and complexity …

Antisense oligonucleotide (AON) therapies involve short strands of modified nucleotides that
target RNA in a sequence‐specific manner, inducing targeted protein knockdown or …

Protoporphyrin IX (PPIX) is an intermediate in the heme biosynthesis pathway. Abnormal
accumulation of PPIX due to certain pathological conditions such as erythropoietic …

The porphyrias are a group of rare diseases, each resulting from a defect in a different
enzymatic step of the heme biosynthetic pathway. They can be broadly divided into two …

The hereditary porphyrias comprise a group of eight metabolic disorders of the heme
biosynthesis pathway. Each porphyria is caused by abnormal function at a separate …

Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are characterized by
skin photosensitivity caused by accumulation of protoporphyrin IX. We aimed to review the …

Erythropoietic protoporphyria (EPP) is an inherited cutaneous porphyria caused by reduced
expression of ferrochelatase, the enzyme that catalyzes the final step in heme biosynthesis …

Abstract The last decade (2013–2023) has seen unprecedented successes in the clinical
translation of therapeutic antisense oligonucleotides (ASOs). Eight such molecules have …

Genetic porphyrias comprise eight diseases caused by defects in the heme biosynthetic
pathway that lead to accumulation of heme precursors. Consequences of porphyria include …

Porphyrias are rare inherited disorders caused by specific enzyme dysfunctions in the haem
synthesis pathway, which result in abnormal accumulation of specific pathway …