Results 41 to 50 of about 36,453 (301)

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

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

Urinary porphyrin excretion in hepatitis C infection [PDF]

, 1999
A high prevalence of hepatitis C virus infection in porphyria cutanea tarda in some populations suggests a close link between viral hepatitis and alteration of porphyrin metabolism.
Jacob, Karl, Vogeser, Michael, Zachoval, Reinhart   +2 more
core   +1 more source

Evaluation of a commercially available rapid urinary porphobilinogen test [PDF]

, 2011
Background: Demonstration of substantially increased urinary excretion of porphobilinogen is the cornerstone of diagnosing acute porphyria crisis. Because porphobilinogen testing is not implemented on clinical chemistry analysers, respective analyses are
Buttery JE, Deacon AC, Mauzerall D, Pierach CA, Schreiber WE   +4 more
core   +1 more source

Acute Intermittent Porphyria: Flaccid Quadriplegia and Encephalopathy due to Posterior Reversible Encephalopathy Syndrome (PRES) [PDF]

Liaquat National Journal of Primary Care
A deficiency of the enzyme HMB Hydroxymethylbilane synthase function, also known as porphobilinogen deaminase, leads to the emergence of acute intermittent porphyria (AIP). AIP is an uncommon form of hepatic porphyria inherited in an autosomal dominant
Saba Zaidi, Ayesha Abdul Samad, Ayesha Jaka   +2 more
doaj   +1 more source

Bioanalytical studies of porphyric disorders using HPLC with fluorescence detection [PDF]

, 2014
We describe here the development, validation, quantification and application of a method for determination of heme porphyrin precursors in the urine of porphyric patients.
Alves, Atecla Nunciata Lopes, Assunção, Nilson Antonio, Bechara, Etelvino José Henriques, Cypriani, Michele Gotelipe de Souza Corrêa   +3 more
core   +2 more sources

Many pitfalls in diagnosis of acute intermittent porphyria: a case report

BMC Research Notes, 2018
Background Acute intermittent porphyria is a rare autosomal dominant disorder caused by a deficiency of the enzyme, hydroxymethylbilane synthase. Recognition of acute neurovisceral attacks can be difficult due to the nonspecific nature of symptoms.
N. L. R. Indika, T. Kesavan, H. W. Dilanthi, K. L. S. P. K. M. Jayasena, N. D. P. D. Chandrasiri, I. N. Jayasinghe, U. M. T. Piumika, D. M. Vidanapathirana, K. D. A. V. Gunarathne, M. Dissanayake, E. Jasinge, W. Kodikara Arachchi, D. Doheny, R. J. Desnick   +13 more
doaj   +1 more source

Acute Intermittent Porphyria: Pathophysiology and Treatment [PDF]

, 1984
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/90337/1/j.1875-9114.1984.tb03340.x ...
Anderson, Badawy, Battersby, Berman, Bickers, Bonkowsky, Bonkowsky, Bonkowsky, Bonkowsky, Bonkowsky, Bottomley, Cavanagh, Cowger, Dhar, Dhar, Disler, Doss, Douer, Eales, Eales, Elsman, Eyck, Felsher, Giger, Granick, Granick, Hanstein, Hellman, Heubel, Kappas, Kappas, Lamon, Lamon, Liem, Ludwig, Magnussen, Magnussen, Massey, Matteis, Mauzerall, McColl, McColl, Menawat, Moore, Moore, Morris, Muller-Eberhard, Muller-Eberhard, Muller-Eberhard, Mustajoki, Nielsen, Nyman, Ohnhaus, Parikh, Pass, Perlroth, Peterson, Reynolds, Ridley, Rifkind, Rizk, Rose, Snyder, Stein, Strand, Sweeny, Tait, Treece, Tschudy, Tschudy, Tschudy, Verneuil, Watson, Watson, Watson, Welland, Wetterberg   +76 more
core   +1 more source

Acute Intermittent Porphyria, Posterior Reversible Encephalopathy Syndrome and Hypertensive Emergency, A Review of The Literature

Egyptian Journal of Critical Care Medicine, 2020
Acute intermittent porphyria is an autosomal dominant inborn error characterized by decreased activity of porphobilinogen deaminase leading to increased levels of haem precursors, namely aminolevulinic acid and porphobilinogen.
Mohamed A. Ahmed, Mahmoud Abdelnabi, Abdallah Almaghraby   +2 more
doaj   +1 more source

Liver Transplantation for Acute Intermittent Porphyria

Liver transplantation, 2020
Recurrent attacks of acute intermittent porphyria (AIP) result in poor quality of life and significant risks of morbidity and mortality. Liver transplantation (LT) offers a cure, but published data on outcomes after LT are limited.
M. Lissing, G. Nowak, R. Adam, V. Karam, Alexander Boyd, L. Gouya, W. Meersseman, E. Melum, U. Ołdakowska-Jedynak, F. Reiter, J. Colmenero, R. Sanchez, U. Herden, J. Langendonk, P. Ventura, H. Isoniemi, O. Boillot, F. Braun, S. Perrodin, E. Mowlem, S. Wahlin   +20 more
semanticscholar   +1 more source