Results 61 to 70 of about 17,878 (259)

Delivering efficient liver-directed AAV-mediated gene therapy. [PDF]

, 2017
Adeno-associated virus vectors (AAV) have become the leading technology for liver-directed gene therapy. After the pioneering trials using AAV2 and AAV8 to treat haemophilia B, D’Avola et al.
Alexander, IE, Baruteau, J, Gissen, P, Waddington, SN   +3 more
core   +1 more source

Iron Overload: Pathophysiology, Diagnosis and Monitoring

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Iron overload is associated with significant health risks, underscoring the importance of understanding its pathophysiology as well as establishing accurate diagnostic and monitoring methods. Chronic iron overload is associated with either genetic disorders characterized by excessive iron accumulation (hereditary hemochromatosis), or is ...
Elena Chatzikalil, Polyxeni Delaporta, Konstantinos Bistas, Antonis Kattamis   +3 more
wiley   +1 more source

Elagolix is porphyrogenic and may induce porphyric attacks in patients with the acute hepatic porphyrias

Molecular Genetics and Metabolism Reports, 2022
Elagolix is an FDA-approved treatment for moderate-to-severe pain associated with endometriosis but has been associated with increased acute porphyric attacks in women with the acute hepatic porphyrias (AHPs).
Christopher D. Ma, Herbert L. Bonkovsky
doaj   +1 more source

Hepatocellular carcinoma in acute hepatic porphyrias: A Damocles Sword.

Molecular Genetics and Metabolism, 2019
Porphyrias are inherited diseases with low penetrance affecting the heme biosynthesis pathway. Acute intermittent porphyria (AIP), variegate porphyria (VP) and hereditary coproporphyria (HCP) together constitute the acute hepatic porphyrias (AHP).
K. Peoc’h, H. Manceau, Z. Karim, S. Wahlin, L. Gouya, H. Puy, J. Deybach   +6 more
semanticscholar   +1 more source

European S2k guidelines on management of autoimmune blistering diseases in children and adolescents

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Autoimmune blistering disorders (AIBDs) in children are rare, challenging to diagnose and treat and often require immunosuppressants. Until now, no paediatric care guidelines existed. The EADV Task Force for AIBDs has developed the consensus‐based recommendations, enabling physicians to adopt a uniform, tailored treatment strategy to improve outcomes ...
A. Nanda, B. Tedbirt, C. Bodemer, M. C. Bolling, M. El Hachem, M. Nikolić, E. Benton, M. Caproni, D. De, D. Didona, K. Drenovska, M. Goebeler, M. Hertl, B. Horváth, M. Kasperkiewicz, D. Kiritsi, M. Larralde, A. V. Marzano, J. Meijer, D. F. Murrell, J. Powell, E. Sprecher, N. S. Chandran, M. M. Tomayko, S. Uzun, N. van Beek, H. Ott, A. Patsatsi, A. Torrelo, A. Welfringer‐Morin, E. Schmidt, P. Joly   +31 more
wiley   +1 more source

Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report

Skin Health and Disease
Congenital erythropoietic porphyria (CEP), or Gunther disease, is a rare genetic disease responsible for severe dermatologic, hepatic and/or haematological damages related to the deficient activity of the uroporphyrinogen III synthase.
Pierre Peterlin, Julia Bonnelye, Alice Garnier, Amandine Le Bourgeois, Thierry Guillaume, Maxime Jullien, Hervé Dutartre, Marie Le Moigne, Caroline Schmitt, Laurent Gouya, Antoine Poli, Sebastien Barbarot, Patrice Chevallier   +12 more
doaj   +1 more source

Congenital erythropoietic porphyria: Two case reports

Indian Journal of Dermatology, 2011
Porphyrias form a group of disorders caused due to defects in the haem synthetic pathway. Congenital erythropoietic porphyia (CEP) is the rarest of the bullous porphyrias (less than 200 cases have been reported till recent times) and a clinician may not ...
Sankha Koley, Vikrant Saoji
doaj   +1 more source

Current and innovative emerging therapies for porphyrias with hepatic involvement.

Journal of Hepatology, 2019
Porphyrias are rare inherited disorders caused by specific enzyme dysfunctions in the haem synthesis pathway, which result in abnormal accumulation of specific pathway intermediates.
A. Fontanellas, M. Ávila, K. Anderson, J. Deybach   +3 more
semanticscholar   +1 more source

Acute Intermittent Porphyria Triggered by COVID‐19 Mimicking Guillain–Barré Syndrome: A Diagnostic Challenge

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Acute intermittent porphyria (AIP) is a rare heme biosynthesis disorder in which the accumulation of neurotoxic porphyrin precursors precipitates neurovisceral attacks. Intercurrent infections, including coronavirus disease 2019 (COVID‐19), may trigger or exacerbate AIP and complicate diagnosis, as clinical manifestations can resemble those of
Payman Sadeghi, Masood Ghahvechi Akbari, Seyed Abbas Hassani, Hosein Alimadadi, Morteza Heidari, Vahid Ziaee   +5 more
wiley   +1 more source

Pilot study of mitochondrial bioenergetics in subjects with acute porphyrias.

Molecular Genetics and Metabolism, 2019
BACKGROUND AND AIMS The acute porphyrias are characterized by defects in heme synthesis, particularly in the liver. In some affected patients, there occurs a critical deficiency in a regulatory heme pool within hepatocytes that leads to up-regulation of ...
N. Dixon, Ting Li, Brandon Marion, Denise Faust, Stephen Dozier, A. Molina, S. Rudnick, H. Bonkovsky   +7 more
semanticscholar   +1 more source