Results 21 to 30 of about 17,878 (259)

Prophylactic heme arginate therapy in acute intermittent hepatic porphyria: A case report [PDF]

Vojnosanitetski Pregled, 2022
Introduction. Among the acute hepatic porphyrias, a small percentage of patients, predominantly female, present with recurrent cyclic attacks of acute intermittent porphyria that occur more than three times a year and sometimes at intervals of less than ...
Krnetić Žarko, Pešić Tatjana, Savić Željka, Jocić Tatiana, Latinović-Bošnjak Olgica, Vračarić Vladimir, Damjanov Dimitrije   +6 more
doaj   +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, 2023
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 ...
P. Stein, Y. Edel, Razan Mansour, R. Mustafa, S. Sandberg, A. Aarsand   +5 more
semanticscholar   +1 more source

Update on the Porphyrias.

Annual Review of Medicine, 2023
The porphyrias are a group of rare diseases, each resulting from a defect in a different enzymatic step of the heme biosynthetic pathway. They can be broadly divided into two categories, hepatic and erythropoietic porphyrias, depending on the primary ...
Amy K. Dickey, R. Leaf, M. Balwani
semanticscholar   +1 more source

Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria. [PDF]

, 2020
PurposeAcute intermittent porphyria (AIP) is a rare inborn error of heme biosynthesis characterized by life-threatening acute attacks. Few studies have assessed quality of life (QoL) in AIP and those that have had small sample sizes and used tools that ...
Anderson, Karl E, Balwani, Manisha, Bissell, D Montgomery, Bonkovsky, Herbert L, Desnick, Robert J, Erwin, Angelika, Keel, Siobán, Levy, Cynthia, McGuire, Brendan, Montgomery, Guy H, Naik, Hetanshi, Overbey, Jessica R, Phillips, John D, Wang, Bruce, Winkel, Gary   +14 more
core   +1 more source

Severe neurologic manifestations in acute intermittent porphyria developed after spine surgery under general anesthesia: a case report [PDF]

Korean Journal of Anesthesiology, 2014
Porphyrias are inherited metabolic disorders resulting from a specific enzyme defect in the heme biosynthetic pathway. Porphyrias are induced by various precipitants.
Eun Young Park, Yi Seul Kim, Kyung-Jee Lim, Hye Kyoung Lee, Soo Kyung Lee, Hyun Choi, Mae-Hwa Kang   +6 more
doaj   +1 more source

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

The influence of excessive alcohol consumption on the course and development of dermatoses

Лечащий Врач, 2022
The spectrum of dermatoses associated with alcohol dependence syndrome is quite extensive. Ethanol and other components of alcoholic beverages affect the structure of the skin and blood vessels, impair immune function, increase the risk of exacerbation ...
A. F. Gatina, N. P. Teplyuk
doaj   +1 more source

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   +1 more source

Cimetidine Does Not Inhibit 5-Aminolevulinic Acid Synthase or Heme Oxygenase Activity: Implications for Treatment of Acute Intermittent Porphyria and Erythropoietic Protoporphyria

Biomolecules, 2023
Acute intermittent porphyria (AIP) is characterized by acute neurovisceral attacks that are precipitated by the induction of hepatic 5-aminolevulinic acid synthase 1 (ALAS1).
Makiko Yasuda, Sangmi Lee, Lin Gan, Hector A. Bergonia, Robert J. Desnick, John D. Phillips   +5 more
doaj   +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