The inborn errors of heme biosynthesis, the Porphyrias, include eight major disorders
resulting from loss-of-function (LOF) or gain-of-function (GOF) mutations in eight of the nine …

Abstract Information about the prevalence of photodermatoses is lacking, despite their
substantial impact on life quality. Our objective was to systematically review the literature to …

Acute intermittent porphyria results from hydroxymethylbilane synthase (HMBS) mutations
that markedly decrease HMBS enzymatic activity. This dominant disease is diagnosed when …

To explore whether an accurate, robust and cost-effective method can be developed for the
routine measurement of the rare diseases diagnostic odysseys to enable the impact of …

Background Acute hepatic porphyria (AHP) is considered to be a risk factor for primary liver
cancer (PLC), but varying risk estimates have been published. Objectives Our aim was to …

Porphyrias are a group of intriguing genetic diseases of the heme pathway, of which
porphyria cutanea tarda (PCT) is the most common. Resulting from a defect in enzymes in …

Background Acute intermittent porphyria (AIP) is a low-penetrant genetic metabolic disease
caused by a deficiency of hydroxymethylbilane synthase (HMBS) in the haem biosynthesis …

Background Porphyria cutanea tarda (PCT) is a skin disorder originating from a deficit of the
liver enzyme uroporphyrinogen decarboxylase. PCT may be a risk factor for hepatocellular …

Background Acute hepatic porphyria (AHP) consists of three rare metabolic disorders. We
investigated the risk of long-term sick leave, disability pension, and premature death in …

Acute intermittent porphyria (AIP), an autosomal dominant disorder due to the half‐normal
activity of hydroxymethylbilane synthase (HMBS), is characterized by acute neurovisceral …