Results 31 to 40 of about 1,705 (212)

Analysis of whole blood protoporphyrin and plasma porphyrin in patients on dapsone [PDF]

Photodermatology, Photoimmunology &Photomedicine, Volume 40, Issue 2, March 2024.
Dawe, Robert S., Haridas, Amrutha, McGuire, Victoria A.   +2 more
core   +3 more sources

Enzyme antioxidant defences and oxidative damage in red blood cells of variegate porphyria patients [PDF]

Redox Report, 2009
Miguel D. Ferrer, Pedro Tauler, Antoni Sureda, Dora Romaguera, Isabel Llompart, Clara Palacín, Jaume Orfila, Josep A. Tur, Antoni Pons   +8 more
openalex   +3 more sources

Variegate Porphyria

, 2020
National Cancer Institute
openaire   +2 more sources

Variegate porphyria : molecular aspects of variegate porphyria in South Africa and their biochemical and clinical consequences [PDF]

, 2000
Bibliography: p. 215-241.Variegate porphyria (VP) is the clinical disorder associated with a deficiency of the haemsynthesising enzyme protoporphyrinogen oxidase (PPO). VP is one of the commonest monogenic inherited disorders in South Africa.
Hift, R J
core   +2 more sources

A case of variegate porphyria in association with coeliac disease and bisphosphonate associated dental osteonecrosis. [PDF]

J Clin Med Res, 2009
Ogundipe OA.
europepmc   +3 more sources

Variegate Porphyria

, 1993
Singal AK, Anderson KE.
europepmc   +2 more sources

Acute hepatic porphyria - classification, diagnosis and treatment

Journal of Education, Health and Sport, 2022
Porphyrias belong to the group of inherited metabolic diseases. Each of the four types of acute hepatic porphyria is caused by a different mutation in the gene of an enzyme involved in the heme biosynthetic pathway. The literature distinguishes between:
Aleksandra Czekaj, Kinga Ruszel, Robert Dubel, Julia Dubel, Natalia Namroży   +4 more
doaj   +1 more source

Generation and characterization of human U-2 OS cell lines with the CRISPR/Cas9-edited protoporphyrinogen oxidase IX gene

Scientific Reports, 2022
In humans, disruptions in the heme biosynthetic pathway are associated with various types of porphyrias, including variegate porphyria that results from the decreased activity of protoporphyrinogen oxidase IX (PPO; E.C.1.3.3.4), the enzyme catalyzing the
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   +11 more
doaj   +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

New heterozygous mutation of protoporphyrinogen oxidase gene in a case of variegate porphyria in Taiwan

Dermatologica Sinica, 2020
Meng-Han Shen, Min-Hui Chi, Tseng-Tong Kuo   +2 more
doaj   +2 more sources