Results 71 to 80 of about 1,705 (212)

Liver transplantation and primary liver cancer in porphyria

Liver International, Volume 45, Issue 3, March 2025.
Abstract The porphyrias are a heterogeneous group of metabolic disorders that result from defects in heme synthesis. The metabolic defects are present in all cells, but symptoms are mainly cutaneous or related to neuropathy. The porphyrias are highly relevant to hepatologists since patients can present with symptoms and complications that require liver
Mattias Lissing, Bruce Wang, Staffan Wahlin   +2 more
wiley   +1 more source

Acute Porphyrias: A Case Report and Review [PDF]

, 2003
As befits a hematologic class of disorders, the word “porphyria ” derives from the Greek word porphuros, which means red or purple (1). The porphyrias (Table 1 and Table 2) are a group of rare metabolic disorders arising from re-duced activity of any of ...
Heydy L. González-Arriaza, J. Michael Bostwick   +1 more
core   +1 more source

Kidney Involvement in Acute Hepatic Porphyrias: Pathophysiology and Diagnostic Implications [PDF]

, 2021
Porphyrias are a group of rare disorders originating from an enzyme dysfunction in the pathway of heme biosynthesis. Depending on the specific enzyme involved, porphyrias manifest under drastically different clinical pictures.
Andrea Ricci, Caludio Carmine Guida, Chiara Cuoghi, Paola Manzini, Paolo Ventura   +4 more
core   +1 more source

Erythropoietic protoporphyrias: Pathogenesis, diagnosis and management

Liver International, Volume 45, Issue 1, January 2025.
Abstract The erythropoietic protoporphyrias consist of three ultra‐rare genetic disorders of the erythroid heme biosynthesis, including erythropoietic protoporphyria (EPP1), X‐linked protoporphyria (XLEPP) and CLPX‐protoporphyria (EPP2), which all lead to the accumulation of protoporphyrin IX (PPIX) in erythrocytes.
Anna‐Elisabeth Minder, Louisa G. Kluijver, Jasmin Barman‐Aksözen, Elisabeth I. Minder, Janneke G. Langendonk   +4 more
wiley   +1 more source

Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria

Orphanet Journal of Rare Diseases, 2013
Variegate porphyria (VP) is an autosomal dominantly inherited hepatic porphyria. The genetic defect in the PPOX gene leads to a partial defect of protoporphyrinogen oxidase, the penultimate enzyme of heme biosynthesis.
Barbaro Michela, Kotajärvi Maire, Harper Pauline, Floderus Ylva   +3 more
doaj   +1 more source

Neuralgic amyotrophy presentation of acute intermittent porphyria: A case report

Journal of the Peripheral Nervous System, Volume 29, Issue 4, Page 567-569, December 2024.
Abstract Background and Aims Porphyrias are inherited metabolic disorders caused by mutations in genes encoding enzymes involved in the heme biosynthetic pathway, leading to the accumulation of heme precursors. Acute hepatic porphyrias (AHP), including acute intermittent porphyria (AIP), can present with predominant peripheral neurological ...
Julian Theuriet, Mathieu Gerfaud‐Valentin, Cécile‐Audrey Durel, Laurent Gouya, Antoine Pegat   +4 more
wiley   +1 more source

Dental Treatment of the Patient with Porphyria [PDF]

, 2005
Porfirije su skupina nasljednih bolesti uzrokovanih defektnim enzimima na biosintetskom putu hema. Ovisno o defektu pojedinog enzima razlikujemo i razne vrste porfirija.
Berislav Perić, Niko Krakar
core   +1 more source

High disease burden and healthcare resource usage in patients with acute porphyria—A population‐based analysis

Liver International, Volume 44, Issue 10, Page 2639-2650, October 2024.
Abstract Background and Aims Acute porphyria is a chronic recurrent disease with late diagnosis, heterogeneous clinical presentations and potentially devastating complications. The study aimed at providing real‐world evidence on the natural course of acute porphyria, patient characteristics, disease burden, and healthcare utilization before diagnosis ...
Ulrich Stölzel, Bjoern Ambrosius, Sarah Brun, Frank Tacke   +3 more
wiley   +1 more source

Acute Porphyrias in the USA: Features of 108 Subjects from Porphyrias Consortium [PDF]

, 2014
BackgroundRecent descriptions of the clinical and laboratory features of subjects with acute porphyrias in the US are lacking. Our aim was to describe clinical, biochemical, and genetic features of 108 subjects.MethodsBetween September 2010 and December ...
Anderson, Karl E, Baillargeon, Gwen, Bishop, David, Bissell, D Montgomery, Bloomer, Joseph R, Bonkovsky, Herbert L, Bossi, Krista, Desnick, Robert J, Gandolfo, Laura, Light, Carrie, Maddukuri, Vinaya C, Naik, Hetanshi, Peter, Inga, Phillips, John D, Yazici, Cemal   +14 more
core   +1 more source

Long‐term complications in acute porphyria

Liver International, Volume 44, Issue 9, Page 2197-2207, September 2024.
Abstract New treatment options and low attack‐related mortality have changed the life expectancy of patients with acute porphyria (AP) to that of the general population. Clinicians should therefore be aware of the long‐term complications of AP, which typically include chronic neuropathy and encephalopathy, high blood pressure and porphyria‐associated ...
Elena Pischik, Mattias Lissing, Nicolas Pallet, Raili Kauppinen   +3 more
wiley   +1 more source