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Items: 1 to 20 of 81

1.
Understanding Hepatic Porphyrias: Symptoms, Treatments, and Unmet Needs
Oluwashanu Balogun, Kari Nejak-Bowen
Semin Liver Dis. Author manuscript; available in PMC 2024 Jul 24.
Published in final edited form as: Semin Liver Dis. 2024 May; 44(2): 209–225. Published online 2024 May 17. doi: 10.1055/s-0044-1787076
PMCID:
PMC11268267
AbstractArticlePDF–1.4M
2.
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
Yutaka Horie, Yuka Yasuoka, Tomohide Adachi
Orphanet J Rare Dis. 2023; 18: 384. Published online 2023 Dec 8. doi: 10.1186/s13023-023-02913-0
PMCID:
PMC10704654
AbstractArticlePDF–1.1M
3.
Porphyrias: Uncommon disorders masquerading as common childhood diseases
A Chakraborty, M Muranjan, S Karande, V Kharkar
J Postgrad Med. 2023 Jul-Sep; 69(3): 164–171. Published online 2023 Apr 20. doi: 10.4103/jpgm.jpgm_698_22
PMCID:
PMC10394526
AbstractArticle
4.
AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review
Bruce Wang, Herbert L. Bonkovsky, Joseph K. Lim, Manisha Balwani
Gastroenterology. Author manuscript; available in PMC 2023 Jul 11.
Published in final edited form as: Gastroenterology. 2023 Mar; 164(3): 484–491. Published online 2023 Jan 13. doi: 10.1053/j.gastro.2022.11.034
PMCID:
PMC10335308
AbstractArticlePDF–456K
5.
A 25-Hour Fast Among Quiescent Hereditary Coproporphyria and Variegate Porphyria Patients is Associated With a Low Risk of Complications
Yonatan Edel, Rivka Mamet, Iftach Sagy, Igor Snast, Ran Kaftory, Tomer Mimouni, Assi Levi
Rambam Maimonides Med J. 2023 Jan; 14(1): e0003. Published online 2023 Jan 29. doi: 10.5041/RMMJ.10490
PMCID:
PMC9888486
AbstractArticlePDF–383K
6.
An Overview of Acute Hepatic Porphyrias: Clinical Implications, Diagnostic Approaches, and Management Strategies
Tanyel Zübarioğlu, Ertuğrul Kıykım, Çiğdem Aktuğlu-Zeybek
Turk Arch Pediatr. 2023 Jan; 58(1): 3–9. Published online 2023 Jan 1. doi: 10.5152/TurkArchPediatr.2022.22301
PMCID:
PMC9885782
AbstractArticlePDF–1.0M
7.
Case Report: Variegate porphyria disclosed by post-gastric bypass complications and causing predominant painful sensorimotor axonal peripheral neuropathy
Edwige Collaud, Luis Wittwer, Anna-Elisabeth Minder, Jean-Marie Annoni, Elisabeth I. Minder, Joelle N. Chabwine
Front Genet. 2022; 13: 993453. Published online 2022 Oct 31. doi: 10.3389/fgene.2022.993453
PMCID:
PMC9662787
AbstractArticlePDF–801K
8.
ALAD Inhibition by Porphobilinogen Rationalizes the Accumulation of δ-Aminolevulinate in Acute Porphyrias
Itxaso San Juan, Tania Pereira-Ortuzar, Xabier Cendoya, Ana Laín, Jordi To-Figueras, Borja Mateos, Francisco J. Planes, Ganeko Bernardo-Seisdedos, José M. Mato, Oscar Millet
Biochemistry. 2022 Nov 1; 61(21): 2409–2416. Published online 2022 Oct 14. doi: 10.1021/acs.biochem.2c00434
PMCID:
PMC9631992
AbstractArticlePDF–3.8M
9.
Generation and characterization of human U-2 OS cell lines with the CRISPR/Cas9-edited protoporphyrinogen oxidase IX gene
Zora Novakova, Mirko Milosevic, Zsofia Kutil, Marketa Ondrakova, Barbora Havlinova, Petr Kasparek, Cristian Sandoval-Acuña, Zuzana Korandova, Jaroslav Truksa, Marek Vrbacky, Jakub Rohlena, Cyril Barinka
Sci Rep. 2022; 12: 17081. Published online 2022 Oct 12. doi: 10.1038/s41598-022-21147-x
PMCID:
PMC9556554
AbstractArticlePDF–4.8M
10.
Therapy Follows Diagnosis: Old and New Approaches for the Treatment of Acute Porphyrias, What We Know and What We Should Know
Petro E. Petrides
Diagnostics (Basel) 2022 Jul; 12(7): 1618. Published online 2022 Jul 3. doi: 10.3390/diagnostics12071618
PMCID:
PMC9325038
AbstractArticlePDF–1.7M
11.
Risk of primary liver cancer in acute hepatic porphyria patients: A matched cohort study of 1244 individuals
Mattias Lissing, Daphne Vassiliou, Ylva Floderus, Pauline Harper, Matteo Bottai, Marianna Kotopouli, Hannes Hagström, Eliane Sardh, Staffan Wahlin
J Intern Med. 2022 Jun; 291(6): 824–836. Published online 2022 Mar 2. doi: 10.1111/joim.13463
PMCID:
PMC9311710
AbstractArticlePDF–547K
12.
Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives
Matteo Marcacci, Andrea Ricci, Chiara Cuoghi, Stefano Marchini, Antonello Pietrangelo, Paolo Ventura
Orphanet J Rare Dis. 2022; 17: 160. Published online 2022 Apr 7. doi: 10.1186/s13023-022-02314-9
PMCID:
PMC8991793
AbstractArticlePDF–1.3M
13.
ABCB6 polymorphisms are not overly represented in patients with porphyria
Colin P. Farrell, Gäel Nicolas, Robert J. Desnick, Charles J. Parker, Jerome Lamoril, Laurent Gouya, Zoubida Karim, Dimitri Tchernitchko, Brenden Chan, Herve Puy, John D. Phillips
Blood Adv. 2022 Feb 8; 6(3): 760–766. Published online 2022 Jan 27. doi: 10.1182/bloodadvances.2021005484
PMCID:
PMC8945301
AbstractArticlePDF–938K
14.
Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy
Katrin Baumann, Raili Kauppinen
Mol Genet Metab Rep. 2022 Mar; 30: 100842. Published online 2022 Feb 2. doi: 10.1016/j.ymgmr.2022.100842
PMCID:
PMC8856918
AbstractArticlePDF–1.8M
15.
A boy with blistering of sun-exposed skin and finger shortening: the first case of Variegate Porphyria with a novel mutation in protoporphyrinogen oxidase (PPOX) gene in Iran: a case report and literature review
Mohammad Vafaee-Shahi, Saeide Ghasemi, Aina Riahi, Zahra Sadr
Ital J Pediatr. 2022; 48: 27. Published online 2022 Feb 14. doi: 10.1186/s13052-022-01215-8
PMCID:
PMC8842551
AbstractArticlePDF–786K
16.
Kidney Involvement in Acute Hepatic Porphyrias: Pathophysiology and Diagnostic Implications
Andrea Ricci, Claudio Carmine Guida, Paola Manzini, Chiara Cuoghi, Paolo Ventura
Diagnostics (Basel) 2021 Dec; 11(12): 2324. Published online 2021 Dec 10. doi: 10.3390/diagnostics11122324
PMCID:
PMC8700387
AbstractArticlePDF–1.0M
17.
Acute porphyrias – A neurological perspective
Lea M. Gerischer, Franziska Scheibe, Astrid Nümann, Martin Köhnlein, Ulrich Stölzel, Andreas Meisel
Brain Behav. 2021 Nov; 11(11): e2389. Published online 2021 Oct 17. doi: 10.1002/brb3.2389
PMCID:
PMC8613433
AbstractArticlePDF–1.9M
18.
Heterologous expression and purification of recombinant human protoporphyrinogen oxidase IX: A comparative study
Zora Novakova, Daria Khuntsaria, Marketa Gresova, Jana Mikesova, Barbora Havlinova, Shivam Shukla, Lucie Kolarova, Katerina Vesela, Pavel Martasek, Cyril Barinka
PLoS One. 2021; 16(11): e0259837. Published online 2021 Nov 18. doi: 10.1371/journal.pone.0259837
PMCID:
PMC8601502
AbstractArticlePDF–2.0M
19.
Porphyrien
Ulrich Stölzel, Thomas Stauch, Ilja Kubisch
Internist (Berl) 2021; 62(9): 937–951. German. Published online 2021 Jun 29. doi: 10.1007/s00108-021-01066-1
PMCID:
PMC8387262
AbstractArticlePDF–2.0M
20.
mRNA-based therapy in a rabbit model of variegate porphyria offers new insights into the pathogenesis of acute attacks
Daniel Jericó, Karol M. Córdoba, Lei Jiang, Caroline Schmitt, María Morán, Ana Sampedro, Manuel Alegre, María Collantes, Eva Santamaría, Estíbaliz Alegre, Corinne Culerier, Ander Estella-Hermoso de Mendoza, Julen Oyarzabal, Miguel A. Martín, Iván Peñuelas, Matías A. Ávila, Laurent Gouya, Paolo G.V. Martini, Antonio Fontanellas
Mol Ther Nucleic Acids. 2021 Sep 3; 25: 207–219. Published online 2021 May 19. doi: 10.1016/j.omtn.2021.05.010
PMCID:
PMC8368795
AbstractArticlePDF–1.0M

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