Results 51 to 60 of about 1,705 (212)

Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias

Metabolites, 2014
Heme, like chlorophyll, is a primordial molecule and is one of the fundamental pigments of life. Disorders of normal heme synthesis may cause human diseases, including certain anemias (X-linked sideroblastic anemias) and porphyrias.
Siddesh Besur, Wehong Hou, Paul Schmeltzer, Herbert L. Bonkovsky   +3 more
doaj   +1 more source

Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy

Molecular Genetics and Metabolism Reports, 2022
Background: Acute hepatic porphyria includes four inherited disorders caused by partial deficiencies of enzymes related to the heme biosynthesis. Clinical manifestations include acute attacks, occurring mainly among female patients.
Katrin Baumann, Raili Kauppinen
doaj   +1 more source

Heterologous expression and purification of recombinant human protoporphyrinogen oxidase IX: A comparative study.

PLoS ONE, 2021
Human protoporphyrinogen oxidase IX (hPPO) is an oxygen-dependent enzyme catalyzing the penultimate step in the heme biosynthesis pathway. Mutations in the enzyme are linked to variegate porphyria, an autosomal dominant metabolic disease.
Zora Novakova, Daria Khuntsaria, Marketa Gresova, Jana Mikesova, Barbora Havlinova, Shivam Shukla, Lucie Kolarova, Katerina Vesela, Pavel Martasek, Cyril Barinka   +9 more
doaj   +2 more sources

Haem Biosynthesis and Antioxidant Enzymes in Circulating Cells of Acute Intermittent Porphyria Patients. [PDF]

PLoS ONE, 2016
The aims of the present study were to explore the expression pattern of haem biosynthesis enzymes in circulating cells of patients affected by two types of porphyria (acute intermittent, AIP, and variegate porphyria, VP), together with the antioxidant ...
Miguel D Ferrer, Antonia Mestre-Alfaro, Magdalena Martínez-Tomé, Lucrecia Carrera-Quintanar, Xavier Capó, Antonia M Jiménez-Monreal, Luis García-Diz, Enrique Roche, María A Murcia, Josep A Tur, Antoni Pons   +10 more
doaj   +1 more source

Linkage Disequilibrium Analysis in a Recently Founded Population: Evaluation of the Variegate Porphyria Founder in South African Afrikaners [PDF]

American Journal of Human Genetics, 1998
J.Z. Groenewald, Junita Liebenberg, Ilse M. Groenewald, Louise Warnich   +3 more
openalex   +3 more sources

Evaluation of a commercially available rapid urinary porphobilinogen test [PDF]

, 2011
Background: Demonstration of substantially increased urinary excretion of porphobilinogen is the cornerstone of diagnosing acute porphyria crisis. Because porphobilinogen testing is not implemented on clinical chemistry analysers, respective analyses are
Buttery JE, Deacon AC, Mauzerall D, Pierach CA, Schreiber WE   +4 more
core   +1 more source

Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study [PDF]

, 2016
Background: The acute hepatic porphyrias (AHPs) are rare inborn errors of heme biosynthesis, characterized clinically by life-threatening acute neurovisceral attacks.
Balwani, M, Desnick, RJ, Naik, H, Sanderson, SC, Stoecker, M   +4 more
core   +1 more source

Clinical features of acute attacks, chronic symptoms, and long-term complications among patients with acute hepatic porphyria in Japan: a real-world claims database study

Orphanet Journal of Rare Diseases, 2023
Background Acute hepatic porphyria (AHP) is a family of rare genetic diseases, including acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and delta-aminolevulinic acid dehydratase-deficient porphyria.
Yutaka Horie, Yuka Yasuoka, Tomohide Adachi   +2 more
doaj   +1 more source

Timing for treatment of HCV recurrence after liver transplantation: the earlier the better. [PDF]

, 2016
HCV is the leading cause of death from liver disease and is the most common indication for a liver transplantation. Although HCV is a widespread health problem, disease management is particularly challenging in several key subpopulations, including liver
Burra, Patrizia, Russo, Francesco Paolo, Zanetto, A   +2 more
core   +1 more source

Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study

Orphanet Journal of Rare Diseases, 2020
Background Acute hepatic porphyria (AHP) consists of three rare metabolic disorders. We investigated the risk of long-term sick leave, disability pension, and premature death in individuals with AHP compared to the general population.
Carl Michael Baravelli, Aasne Karine Aarsand, Sverre Sandberg, Mette Christophersen Tollånes   +3 more
doaj   +1 more source