Results 41 to 50 of about 1,705 (212)

montalcino, A zebrafish model for variegate porphyria. [PDF]

Exp Hematol, 2008
Dooley KA, Fraenkel PG, Langer NB, Schmid B, Davidson AJ, Weber G, Chiang K, Foott H, Dwyer C, Wingert RA, Zhou Y, Paw BH, Zon LI, Tübingen 2000 Screen Consortium.   +13 more
europepmc   +3 more sources

Variegate Porphyria in Western Europe: Identification of PPOX Gene Mutations in 104 Families, Extent of Allelic Heterogeneity, and Absence of Correlation between Phenotype and Type of Mutation [PDF]

American Journal of Human Genetics, 1999
Sharon D. Whatley, Hervé Puy, Rhian Morgan, Anne-Marie Robréau, Andrew Roberts, Y Nordmann, George H. Elder, Jean‐Charles Deybach   +7 more
openalex   +3 more sources

Therapy Follows Diagnosis: Old and New Approaches for the Treatment of Acute Porphyrias, What We Know and What We Should Know

Diagnostics, 2022
Heme, iron protoporphyrin IX, is one of life’s most central molecules. Hence, availability of the enzymatic machinery necessary for its synthesis is crucial for every cell.
Petro E. Petrides
doaj   +1 more source

Porphyrin precursors and risk of primary liver cancer in acute intermittent porphyria: A case–control study of 188 patients

Journal of Inherited Metabolic Disease, Volume 46, Issue 6, Page 1186-1194, November 2023., 2023
Abstract Acute intermittent porphyria (AIP) is a rare hereditary metabolic disease characterized by acute attacks and accumulation of the porphyrin precursors 5‐aminolevulinic acid (ALA) and porphobilinogen (PBG). Patients with AIP have a high risk of primary liver cancer (PLC).
Mattias Lissing, Axel Wester, Daphne Vassiliou, Ylva Floderus, Pauline Harper, Eliane Sardh, Staffan Wahlin   +6 more
wiley   +1 more source

Nonconvulsive status epilepticus secondary to acute porphyria crisis

Epilepsy and Behavior Case Reports, 2019
Both variegate and acute intermittent porphyria can manifest with various neurological symptoms. Although acute symptomatic seizures have been previously described, they are typically tonic–clonic and focal impaired awareness seizures.
Sara Dawit, Shubhang K. Bhatt, Devika M. Das, Andrew R. Pines, Harn J. Shiue, Brent P. Goodman, Joseph F. Drazkowski, Joseph I. Sirven   +7 more
doaj   +1 more source

Acute Hepatic Porphyrias: Review and Recent Progress. [PDF]

, 2019
The acute hepatic porphyrias (AHPs) are a group of four inherited diseases of heme biosynthesis that present with episodic, acute neurovisceral symptoms.
Andant, Anderson, Andersson, Badawy, Balwani, Bissell, Bissell, Bloomer, Bonkovsky, Bonkovsky, Bonkovsky, Bonkovsky, Bonkowsky, Bonkowsky, Bonkowsky, Bylesjo, Chen, D’Avola, Ferrer, Glueck, Handschin, Jeans, Lambrecht, Lane, Marsden, McGuire, Pallet, Sardh, Sardh, Shen, Singal, Stein, Stewart, Tchernitchko, Wahlin, Watson, Watson, Willandt, Wu, Yarra, Yasuda   +40 more
core   +1 more source

Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network

Journal of Inherited Metabolic Disease, Volume 46, Issue 4, Page 662-674, July 2023., 2023
Abstract Acute porphyrias are a group of rare inherited disorders causing acute neurovisceral attacks. Many terms used frequently in the literature and clinical practice are ambiguous, which can lead to confusion in the way patients are managed, studied, and reported in clinical studies.
Penelope E. Stein, Yonatan Edel, Razan Mansour, Reem A. Mustafa, Sverre Sandberg, Members of the Acute Porphyria Expert Panel, Aasne K. Aarsand, Karl E. Anderson, Michael Badminton, Manisha Balwani, Herbert L. Bonkovsky, Maria Domenica Cappellini, David Cassiman, Jean‐Charles Deybach, Ibrahim El Mikati, Liz Gill, Laurent Gouya, Pauline Harper, Richard Hift, Aneta Ivanova, Janneke G. Langendonk, Hetanshi Naik, Matteo Marcacci, Elena Pischik, David Rees, Eliane Sardh, Caroline Schmitt, Mark Sonderup, Ulrich Stölzel, Jordi To‐Figueras, Paolo Ventura, Bruce Wang, Christina Weiler‐Normann, Sharon Whatley, Paul Wilson   +34 more
wiley   +1 more source

Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort Study

Journal of Inherited Metabolic Disease, Volume 46, Issue 4, Page 675-686, July 2023., 2023
Abstract Current knowledge of pregnancy and perinatal outcomes in women with acute hepatic porphyria (AHP) is largely based on biochemical disease models, case reports, and case series. We performed a nationwide, registered‐based cohort study to investigate the association between maternal AHP and the risk of adverse pregnancy and perinatal outcomes ...
Ängla Mantel, Daphne Vassiliou, Mattias Lissing, Olof Stephansson, Staffan Wahlin, Eliane Sardh   +5 more
wiley   +1 more source

Porphyrias associated with malignant tumors: Results of treatment with ionizing irradiation [PDF]

, 2001
Background: Porphyrin metabolism disorders, known as porphyria, represent inherited or acquired diseases. The development of porphyria due to light sensibility occurs especially with exposure to wavelengths in the range of 300-700 nm.
Dühmke, Eckhart, Panzer, M., Schaffer, Moshe, Schaffer, Pamela Manuela, Wilkowski, R.   +4 more
core   +1 more source

Risk for incident comorbidities, nonhepatic cancer and mortality in acute hepatic porphyria: A matched cohort study in 1244 individuals

Journal of Inherited Metabolic Disease, Volume 46, Issue 2, Page 286-299, March 2023., 2023
Abstract The acute hepatic porphyrias (AHP) are associated with long‐term complications such as primary liver cancer, hypertension, and chronic kidney disease. Data on other related comorbidities are scarce. In this register‐based, matched cohort study, we assessed the risks of nonhepatic cancers, cardiovascular diseases, renal diseases, psychiatric ...
Mattias Lissing, Daphne Vassiliou, Ylva Floderus, Pauline Harper, Jacinth Yan, Hannes Hagström, Eliane Sardh, Staffan Wahlin   +7 more
wiley   +1 more source