Increasing evidence suggests that the autism spectrum disorder (ASD) may be associated
with inborn errors of metabolism, such as disorders of amino acid metabolism and transport …

Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease with low
clinical penetrance, caused by mutations in the hydroxymethylbilane synthase (HMBS) …

ABSTRACT Introduction Acute hepatic porphyrias (AHPs) are a family of rare inherited
disorders characterized by enzyme dysfunctions in the hepatic pathway of heme …

Rare diseases are most often caused by inherited genetic disorders that, after translation,
will result in a protein with altered function. Decreased protein stability is the most frequent …

The acute hepatic porphyrias (AHPs) are inherited disorders of heme biosynthesis
characterized by life-threatening acute neurovisceral attacks precipitated by factors that …

Acute intermittent porphyria (AIP) is an autosomal dominant disorder of heme biosynthesis
in the liver that is caused by the accumulation of toxic heme metabolites aminolevulinic acid …

ALA-mediated photodynamic therapy (PDT) has been developed around the heme
biosynthesis physiological pathway. It is based on the external supplementation of 5 …

ABSTRACT Introduction Acute hepatic porphyrias (AHPs) are a group of rare genetic
disorders that affect the enzymes of the heme biosynthetic pathway. Patients have a varied …

Porphyrias are rare, mostly inherited disorders resulting from altered activity of specific
enzymes in the haem synthesis pathway that lead to accumulation of pathway intermediates …

Hepatic porphyrias are a group of metabolic disorders that are characterized by
overproduction and accumulation of porphyrin precursors in the liver. These porphyrins …