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

Acute intermittent porphyria (AIP) is a dominant inherited disorder with a low penetrance that
is caused by mutations in the gene coding for hydroxymethylbilane synthase (HMBS) …

Defects in hydroxymethylbilane synthase (HMBS) can cause acute intermittent porphyria
(AIP), an acute neurological disease. Although sequencing-based diagnosis can be …

Acute intermittent porphyria (AIP) is an autosomal dominant disease caused by the hepatic
deficiency of porphobilinogen deaminase (PBGD) and the slowdown of heme biosynthesis …

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 …

Background: Acute intermittent porphyria (AIP) is caused by a partial deficiency of
hydroxymethylbilane synthase and affects heme biosynthesis. Mutations in the HMBS gene …

Background Since enzyme replacement therapy for Gaucher disease (MIM# 230800) has
become available, both awareness of and the natural history of the disease have changed …

Acute intermittent porphyria (AIP) is caused by mutations in the gene encoding
hydroxymethylbilane synthase (HMBS), a key enzyme in the heme biosynthesis pathway …

This study aims to present the serum metabolite profiles of patients with acute intermittent
porphyria (AIP) and identify specific metabolites that could potentially discriminate between …

BACKGROUND Acute intermittent porphyria (AIP) is a rare autosomal dominant porphyrin
metabolic disease caused by a mutation in the hydroxymethylbilane synthase (HMBS) gene …