Results 31 to 40 of about 34,340 (222)

A MspI polymorphism for the human porphobilinogen deaminase gene

Nucleic Acids Research, 1987
David H. Llewellyn, Noor Kalsheker, George H. Elder, Paul R. Harrison, Stany Chrétien, M. Goossens   +5 more
openalex   +5 more sources

Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome: A case report

Journal of Pediatric Critical Care, 2021
Acute intermittent porphyria (AIP) is an inborn error caused due to inherited deficiency of porphobilinogen (PBG) deaminase leading to increased levels of aminolevulinic acid and PBG.
Ravi Sharma, Ajay Singh, Anupam Chaturvedi   +2 more
doaj   +1 more source

Acute Hepatic Porphyria – Minireview [PDF]

Modern Medicine, 2023
Acute Hepatic Porphyria (AHP) is an uncommon and hereditary illness that belongs to a group of disorders known as porphyries. This condition results from a deficiency of the porphobilinogen deaminase enzyme, which plays a role in heme production, a ...
Aida SAVU, Andrei EDU, Lucian NEGREANU
doaj   +1 more source

Gene Dosage Sensitivity and Human Genetic Diseases. [PDF]

J Inherit Metab Dis
ABSTRACT Here we review the historical background and contemporary insights into genetic dominance, focusing on haploinsufficiency (HI), that is, when the function of only one allele of a gene is not enough to ensure a normal phenotype in a diploid organism.
Veitia RA, Zschocke J, Birchler JA.
europepmc   +2 more sources

Successful Pregnancy After Combined Liver and Renal Transplantation in a Patient With Acute Intermittent Porphyria. [PDF]

Case Rep Transplant
Acute intermittent porphyria is a rare inborn disease of porphyrin metabolism which can cause severe abdominal pain attacks and neurological symptoms. Here, we report a patient with a 20‐year history of severe chronic manifestations of acute intermittent porphyria that led to end‐stage renal disease and liver function impairment. Since only transplants
Petrides PE, Andrassy J, Guba M, Stangl M, Bronisch O, Beykirch MK.   +5 more
europepmc   +2 more sources

Acute Intermittent Porphyria, Posterior Reversible Encephalopathy Syndrome and Hypertensive Emergency, A Review of The Literature

Egyptian Journal of Critical Care Medicine, 2020
Acute intermittent porphyria is an autosomal dominant inborn error characterized by decreased activity of porphobilinogen deaminase leading to increased levels of haem precursors, namely aminolevulinic acid and porphobilinogen.
Mohamed A. Ahmed, Mahmoud Abdelnabi, Abdallah Almaghraby   +2 more
doaj   +1 more source

Profiling of Serum Metabolites of Acute Intermittent Porphyria and Asymptomatic HMBS Mutation Carriers

Cells, 2021
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 AIP, asymptomatic HMBS mutation carriers, and healthy individuals ...
Chia-Ni Lin, Ming-Shi Shiao, Mei-Ling Cheng, Chiung-Mei Chen, Hung-Chou Kuo   +4 more
doaj   +1 more source

Unique Properties of Plasmodium falciparum Porphobilinogen Deaminase [PDF]

Journal of Biological Chemistry, 2008
The hybrid pathway for heme biosynthesis in the malarial parasite proposes the involvement of parasite genome-coded enzymes of the pathway localized in different compartments such as apicoplast, mitochondria, and cytosol. However, knowledge on the functionality and localization of many of these enzymes is not available.
Nagaraj, Viswanathan Arun, Arumugam, Rajavel, Gopalakrishnan, Bulusu, Sri Jyothsna, Yeleswarapu, Rangarajan, Pundi N, Padmanaban, Govindarajan   +5 more
openaire   +2 more sources

Rat porphobilinogen deaminase cDNA: nucleotide sequence of the erythropoletic form

Nucleic Acids Research, 1988
Anne-Caroline Stubnicer, Christiane Picat, Bernard Grandchamp   +2 more
openalex   +5 more sources

A novel 3-base deletion (IVS3+2_4delTGG) of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyria

Genetics and Molecular Biology, 2007
Acute intermittent porphyria (AIP, OMIM 176000) is an autosomal dominant metabolic disease caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS; EC 4.3.1.8; formely named porphobilinogen deaminase, PBGD), mapped to chromosome 11q23.
Georgina Severo Ribeiro, Paulo Eurípedes Marchiori, Mário Hiroyuki Hirata, Ivanise Rebecchi, Adriana Natsue Ozaki, Maria Aparecida Nagai, Mariana Lopes dos Santos, Raimundo Antonio Gomes Oliveira, Orlando Cesar de Oliveira Barretto   +8 more
doaj   +1 more source