Results 11 to 20 of about 1,644 (213)

Mechanisms of Neuronal Damage in Acute Hepatic Porphyrias [PDF]

Diagnostics, 2021
Porphyrias are a group of congenital and acquired diseases caused by an enzymatic impairment in the biosynthesis of heme. Depending on the specific enzyme involved, different types of porphyrias (i.e., chronic vs. acute, cutaneous vs.
Andrea Ricci, Elena Di Pierro, Matteo Marcacci, Paolo Ventura   +3 more
doaj   +2 more sources

Porphyrias in the Age of Targeted Therapies

Diagnostics, 2021
The porphyrias are a group of eight rare genetic disorders, each caused by the deficiency of one of the enzymes in the heme biosynthetic pathway, resulting in the excess accumulation of heme precursors and porphyrins. Depending on the tissue site as well
Angelika L. Erwin, Manisha Balwani
doaj   +2 more sources

Endothelial Dysfunction in Acute Hepatic Porphyrias [PDF]

Diagnostics, 2022
Background Acute hepatic porphyrias (AHPs) are a group of rare diseases caused by dysfunctions in the pathway of heme biosynthesis. Although acute neurovisceral attacks are the most dramatic manifestations, patients are at risk of developing long-term ...
Andrea Ricci, Gilda Sandri, Matteo Marcacci, Elena Di Pierro, Francesca Granata, Chiara Cuoghi, Stefano Marchini, Antonello Pietrangelo, Paolo Ventura   +8 more
doaj   +2 more sources

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   +2 more sources

Clinical Manifestations and Diagnostic Challenges in Acute Porphyrias

Case Reports in Hematology, 2013
The porphyrias are a group of disorders characterized by an enzyme deficiency in the heme biosynthetic pathway. These can be classified into either erythropoietic or hepatic forms depending on the site of the major enzyme deficiency.
Henry Trier, Vikram P. Krishnasamy, Pashtoon Murtaza Kasi   +2 more
doaj   +2 more sources

Preclinical Development of a Subcutaneous ALAS1 RNAi Therapeutic for Treatment of Hepatic Porphyrias Using Circulating RNA Quantification

Molecular Therapy: Nucleic Acids, 2015
The acute hepatic porphyrias are caused by inherited enzymatic deficiencies in the heme biosynthesis pathway. Induction of the first enzyme 5-aminolevulinic acid synthase 1 (ALAS1) by triggers such as fasting or drug exposure can lead to accumulation of ...
Amy Chan, Abigail Liebow, Makiko Yasuda, Lin Gan, Tim Racie, Martin Maier, Satya Kuchimanchi, Don Foster, Stuart Milstein, Klaus Charisse, Alfica Sehgal, Muthiah Manoharan, Rachel Meyers, Kevin Fitzgerald, Amy Simon, Robert J Desnick, William Querbes   +16 more
doaj   +2 more sources

The diagnosis and management of porphyria cutanea tarda (PCT)

South African Family Practice, 2009
The porphyrias are a group of disorders in which excessive quantities of porphyrins or their precursors are produced. They are due to abnormalities in the control of the porphyrin-haem metabolic pathway.
Mojakgomo H. Motswaledi
doaj   +2 more sources

Acute porphyrias – A neurological perspective [PDF]

Brain and Behavior, 2021
Acute hepatic porphyrias (AHP) can cause severe neurological symptoms involving the central, autonomic, and peripheral nervous system. Due to their relative rarity and their chameleon‐like presentation, delayed diagnosis and misdiagnosis are common. AHPs
Lea M. Gerischer, Franziska Scheibe, Astrid Nümann, Martin Köhnlein, Ulrich Stölzel, Andreas Meisel   +5 more
doaj   +2 more sources

Neurofilament light chain as a biomarker for acute hepatic porphyrias [PDF]

Frontiers in Neurology
BackgroundAcute hepatic porphyrias (AHP) represent a rare group of inherited metabolic disorders of heme biosynthesis pathway. This study aims to determine the diagnostic and prognostic value of serum neurofilament light chain (NfL) as potential ...
Paulo Sgobbi, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Igor Braga Farias, Hélvia Bertoldo de Oliveira, Alana Strucker Barbosa, Camila Alves Pereira, Vanessa de Freitas Moreira, Ícaro França Navarro Pinto, Acary Souza Bulle Oliveira, Wladimir Bocca Vieira de Rezende Pinto   +10 more
doaj   +2 more sources

Acute Intermittent Porphyria Triggered by COVID-19 Mimicking Guillain-Barré Syndrome: A Diagnostic Challenge. [PDF]

Clin Case Rep
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
Sadeghi P, Ghahvechi Akbari M, Hassani SA, Alimadadi H, Heidari M, Ziaee V.   +5 more
europepmc   +2 more sources