Results 21 to 30 of about 31,642 (216)

Spotlight on Givosiran as a Treatment Option for Adults with Acute Hepatic Porphyria: Design, Development, and Place in Therapy

Drug Design, Development and Therapy, 2022
Small interfering ribonucleic acids [siRNAs] are short ribonucleic acid (RNA) fragments cleaved from double-stranded RNA molecules that target and bind to specific sequences on messenger RNA (mRNA), leading to their destruction. Therefore, the siRNA down-
C. Majeed, Christopher D. Ma, Ted Xiao, S. Rudnick, H. Bonkovsky   +4 more
semanticscholar   +1 more source

Porphyria: awareness is the key to diagnosis!

Acta Clinica Belgica, 2021
Porphyrias are disorders of the haem biosynthesis which are encountered infrequently and which often present themselves atypically as a combination of gastrointestinal, neurologic and/or dermatologic symptoms. Although they are primarily caused by enzyme
Benjamin Heymans, W. Meersseman
semanticscholar   +1 more source

Unmasked acute intermittent porphyria in a patient with COVID-19-associated posterior reversible encephalopathy syndrome [PDF]

BMC Neurology
Background Acute intermittent porphyria (AIP) is a rare but treatable disease. COVID-19 has various possible complications including posterior reversible encephalopathy syndrome (PRES).
Hideo Handa, Hiroki Masuda, Satoki Hanayama, Amika Kajiyama, Sawako Suzuki, Atsuhiko Sugiyama, Koutaro Yokote, Satoshi Kuwabara   +7 more
doaj   +2 more sources

Porphyria cutanea tarda increases risk of hepatocellular carcinoma and premature death: a nationwide cohort study

Orphanet Journal of Rare Diseases, 2019
Background Porphyria cutanea tarda (PCT) is a skin disorder originating from a deficit of the liver enzyme uroporphyrinogen decarboxylase. PCT may be a risk factor for hepatocellular carcinoma (HCC) and other cancers, but the evidence is unclear.
Carl Michael Baravelli, Sverre Sandberg, Aasne Karine Aarsand, Mette Christophersen Tollånes   +3 more
doaj   +1 more source

Porphyria

Key Topics In Anaesthesia, 2020
Researchers have identified several types of porphyria, which are distinguished by their genetic cause and their signs and symptoms. Some types of porphyria, called cutaneous porphyrias, primarily affect the skin.
T. Craft, P. Upton
semanticscholar   +1 more source

Detecting rare diseases in electronic health records using machine learning and knowledge engineering: Case study of acute hepatic porphyria

medRxiv, 2020
Background With the growing adoption of the electronic health record (EHR) worldwide over the last decade, new opportunities exist for leveraging EHR data for detection of rare diseases.
A. Cohen, Steven Chamberlin, T. Deloughery, Michelle U. Nguyen, S. Bedrick, S. Meninger, John J Ko, Jigar J Amin, Alex Wei, W. Hersh   +9 more
semanticscholar   +1 more source

Porphyria cutanea tarda and patterns of long-term sick leave and disability pension: a 24-year nationwide matched-cohort study

Orphanet Journal of Rare Diseases, 2022
Background Porphyria cutanea tarda (PCT) is a skin disorder caused by a defect in the liver enzyme uroporphyrinogen decarboxylase and is associated with hepatitis C virus infection, high alcohol intake, smoking and iron overload.
Carl Michael Baravelli, Aasne Karine Aarsand, Sverre Sandberg, Mette Christophersen Tollånes   +3 more
doaj   +1 more source

Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients [PDF]

Anais Brasileiros de Dermatologia, 2013
BACKGROUND: Porphyria cutanea tarda is the most common form of porphyria, characterized by the decreased activity of the uroporphyrinogen decarboxylase enzyme.
Fatima Mendonca Jorge Vieira, Maria Cristina Nakhle, Clarice Pires Abrantes-Lemos, Eduardo Luiz Rachid Cancado, Vitor Manoel Silva dos Reis   +4 more
doaj   +1 more source

Liver Transplantation for Acute Intermittent Porphyria

Liver transplantation, 2020
Recurrent attacks of acute intermittent porphyria (AIP) result in poor quality of life and significant risks of morbidity and mortality. Liver transplantation (LT) offers a cure, but published data on outcomes after LT are limited.
M. Lissing, G. Nowak, R. Adam, V. Karam, Alexander Boyd, L. Gouya, W. Meersseman, E. Melum, U. Ołdakowska-Jedynak, F. Reiter, J. Colmenero, R. Sanchez, U. Herden, J. Langendonk, P. Ventura, H. Isoniemi, O. Boillot, F. Braun, S. Perrodin, E. Mowlem, S. Wahlin   +20 more
semanticscholar   +1 more source

Self-efficacy and self-management strategies in acute intermittent porphyria

BMC Health Services Research, 2019
Background Acute intermittent porphyria (AIP) is an inherited metabolic disease with low clinical penetrance caused by mutations in the hydroxymethylbilane (HMBS) gene.
Marte H. Hammersland, Aasne K. Aarsand, Sverre Sandberg, Janice Andersen   +3 more
doaj   +1 more source