Acute intermittent porphyria (AIP) is an autosomal-dominant hepatic disorder caused by the
half-normal activity of hydroxymethylbilane (HMB) synthase. Symptomatic individuals …

Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disorder characterized
by photosensitivity and by hematologic abnormalities in affected individuals. CEP is …

Conclusion In this US study, 1.5% of patients with AHP had HCC. HCC in AHP occurred in
the absence of cirrhosis, which contrasts with other chronic liver diseases. Patients with AHP, …

Thousand and one amino‐acid kinase 1 (TAOK1) is a MAP3K protein kinase, regulating
different mitogen‐activated protein kinase pathways, thereby modulating a multitude of …

Erythropoietic protoporphyria and X-linked protoporphyria are rare genetic photodermatoses.
Limited expertise with these disorders among physicians leads to diagnostic delays. Here, …

The role of sebelipase alfa in the treatment of lysosomal acid lipase deficiency - Angelika L.
Erwin, 2017 … Dr Erwin has served as an advisory board member for Alexion Pharmaceuticals. …

Gross deletions involving the MEIS2 gene have been described in a small number of
patients with overlapping phenotypes of atrial or ventricular septal defects, cleft palate, and …

The porphyrias are a group of eight rare genetic disorders, each caused by the deficiency of
one of the enzymes in the heme biosynthetic pathway, resulting in the excess accumulation …

Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare diseases
characterized by acute, nonblistering cutaneous phototoxicity.[1, 2] EPP results from …

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