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Molecular study of the hydroxymethlybilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria
TLDR
Molecular analysis of the PBGD gene is a more reliable method comparing to enzymatic assay in the diagnosis of AIP, indicating the heterogeneity of molecular defects causing AIP. Expand
Coexistence of hereditary coproporphyria with acute intermittent porphyria.
TLDR
The results obtained suggest that deficiency of porphobilinogen deaminase and coproporphyrinogen oxidase can be inherited independently. Expand
Nine novel mutations in the hydroxymethylbilane synthase gene of Polish patients with acute intermittent porphyria
TLDR
Nine novel HMBS mutations are identified in 11 unrelated Polish patients all suffering from the classical form of AIP, a hereditary disorder of heme biosynthesis and results from partial deficiency of hydroxymethylbilane synthase activity. Expand
[Acute intermittent porphyria and oral contraception. Case report].
TLDR
In the described case there were a few porphyrogenous factors whose action was observed, among which the most important was desogestrel, and a change in contraceptive therapy that would exclude hormonal contraception was suggested. Expand
Acute intermittent porphyria in Poland.
  • T. Darocha, A. Gregor
  • Medicine
  • South African medical journal = Suid-Afrikaanse…
  • 25 September 1971
The function and morphology of the liver in porphyria cutanea tarda.
TLDR
The aminopyrine breath test, postprandial serum bile acids, and routine liver tests were assessed as indicators of liver dysfunction in 38 patients with porphyria cutanea tarda and there was no evident relationship between morphological and functional liver changes. Expand
Abnormalities in liver function and morphology and impaired aminopyrine metabolism in hereditary hepatic porphyrias.
TLDR
It is possible that the defective heme biosynthesis, perhaps related to the reduced aminopyrine demethylation, could form the basis for the ultrastructural hepatic changes in porphyria, and could be the cause of the elevated postprandial serum bile acids levels. Expand
New missense mutation in the human ferrochelatase gene in a family with erythropoietic protoporphyria: functional studies and correlation of genotype and phenotype.
TLDR
The results indicate a possible link between the “null-allele” mutations in the FECH gene and liver complications in EPP, and allow prediction of the pathogenesis of EPP. Expand
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