Results 191 to 200 of about 3,705 (210)
Some of the next articles are maybe not open access.
Human Mutation, 1994
Acute intermittent porphyria (AIP) is an autosomal dominant inborn error of metabolism that results from the half-normal activity of the third enzyme in the heme biosynthetic pathway, hydroxymethylbilane synthase (HMB-synthase). AIP is an ecogenetic condition, with life-threatening acute attacks precipitated by various factors including drugs, alcohol,
Robert Desnick
exaly +3 more sources
Acute intermittent porphyria (AIP) is an autosomal dominant inborn error of metabolism that results from the half-normal activity of the third enzyme in the heme biosynthetic pathway, hydroxymethylbilane synthase (HMB-synthase). AIP is an ecogenetic condition, with life-threatening acute attacks precipitated by various factors including drugs, alcohol,
Robert Desnick
exaly +3 more sources
Annals of Human Genetics, 2015
SummaryAcute intermittent porphyria (AIP), an autosomal dominant disorder, is caused by a deficiency of hydroxymethylbilane synthase (HMBS). In the present study, we sought to establish a correlation between HMBS activity with the presence of mutations and polymorphisms.
Tatiana Nogueira, Maria A Nagai
exaly +3 more sources
SummaryAcute intermittent porphyria (AIP), an autosomal dominant disorder, is caused by a deficiency of hydroxymethylbilane synthase (HMBS). In the present study, we sought to establish a correlation between HMBS activity with the presence of mutations and polymorphisms.
Tatiana Nogueira, Maria A Nagai
exaly +3 more sources
Analytical Biochemistry, 2009
Acute intermittent porphyria (AIP) represents the most frequent type of acute porphyria. The underlying cause is a defect in the hydroxymethylbilane synthase (HMBS) gene. Diagnosis of AIP is crucial for preventing life-threatening, acute attacks among both symptomatic and asymptomatic carriers.
Pavel Martasek
exaly +3 more sources
Acute intermittent porphyria (AIP) represents the most frequent type of acute porphyria. The underlying cause is a defect in the hydroxymethylbilane synthase (HMBS) gene. Diagnosis of AIP is crucial for preventing life-threatening, acute attacks among both symptomatic and asymptomatic carriers.
Pavel Martasek
exaly +3 more sources
Journal of Hepatology, 2015
Variegate porphyria (VP) and acute intermittent porphyria (AIP), the two most common types of acute porphyrias (AHPs), result from a partial deficiency of protoporphyrinogen oxidase (PPOX) and hydroxymethylbilane synthase (HMBS), respectively. A rare but serious complication in the AHPs is hepatocellular carcinoma (HCC).
Jasmin Barman-Aksözen +2 more
exaly +3 more sources
Variegate porphyria (VP) and acute intermittent porphyria (AIP), the two most common types of acute porphyrias (AHPs), result from a partial deficiency of protoporphyrinogen oxidase (PPOX) and hydroxymethylbilane synthase (HMBS), respectively. A rare but serious complication in the AHPs is hepatocellular carcinoma (HCC).
Jasmin Barman-Aksözen +2 more
exaly +3 more sources
Comparative inhibition of hepatic hydroxymethylbilane synthase by both hard and soft metal cations
Canadian Journal of Biochemistry and Cell Biology, 1984The in vitro inhibition of hydroxymethylbilane synthase (EC 4.3.1.8, uroporphyrinogen I synthetase) obtained from livers of Sprague–Dawley rats has been studied with a wide range of di- and tri-valent metal ions. After purification by cell lysis, heat treatment, and centrifugation, the stable, soluble enzyme yielded sigmoidal inhibition curves with ...
D J, Farmer, B R, Hollebone
openaire +2 more sources
Clinical Biochemistry, 1999
Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease caused by a decreased activity of hydroxymethylbilane synthase (HMBS). As far as the gene abnormalities of the HMBS, many different mutations have been reported. In this work, we investigated the presence of mutations in a Japanese family with AIP.A 44-year-old Japanese male ...
N, Maeda +8 more
exaly +3 more sources
Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease caused by a decreased activity of hydroxymethylbilane synthase (HMBS). As far as the gene abnormalities of the HMBS, many different mutations have been reported. In this work, we investigated the presence of mutations in a Japanese family with AIP.A 44-year-old Japanese male ...
N, Maeda +8 more
exaly +3 more sources
A new synthesis of porphobilinogen analogues, inhibitors of hydroxymethylbilane synthase.
Organic & biomolecular chemistry, 2004Two analogues of porphobilinogen, the 6-methyl and 6,11-ethano derivatives, have been made by a new synthetic route and the 6-methyl analogue has proved to be the most potent inhibitor of hydroxymethylbilane synthase yet reported (Ki = 3 microM).
Raef, Ahmed, Finian J, Leeper
openaire +1 more source
Purification of hydroxymethylbilane synthase from human erythrocytes
Biochemical Society Transactions, 1985RICHARD C. BROWN +2 more
openaire +1 more source
Structure and Function Studies of Hydroxymethylbilane Synthase using SRS and ESRF
Biochemical Society Transactions, 1999P. F. Faulder +10 more
openaire +1 more source