Results 91 to 100 of about 1,705 (212)

Cytosolic persistence of mouse brain CYP1A1 in chronic heme deficiency [PDF]

, 2017
Previous work has demonstrated that the function of extrahepatic cytochrome P450 CYP1A1 is dependent on the availability of heme. CYP1A1 is involved in the activation of polyaromatic hydrocarbons.
Hoffmann, Francine, Lindberg, Raija L.P., Meyer, Ralf P., Meyer, Urs A.   +3 more
core  

A Case of Dementia and Cataract in the UK [PDF]

, 2017
An elderly patient with Alzheimer’s disease had deteriorated with increasing confusion and clumsiness being attributed in part to visual deterioration.
D'Ath, P., Wilson, C. M.
core  

The incorporation of glycine-2-14C into urinary uric acid in normal and porphyric human subjects [PDF]

, 2019
Click on the link to ...
Dowdle, E.B., Eales, L., Pimstone, N.R.
core   +1 more source

Genetic analysis of Variegate Porphyria (VP) in Italy: Identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene [PDF]

, 2003
Mauro D’Amato, Margherita Bonuglia, Simona N. Barile, D. Griso, Annelisa Macrì, G. Biolcati   +5 more
openalex   +1 more source

Homozygous Variegate Porphyria: Two Similar Cases in Unrelated Families [PDF]

, 1986
Gillian Murphy, J.L.M. Hawk, I.A. Magnus, D F Barrett, G H Elder, S.G. Smith   +5 more
openalex   +1 more source

Establishing a network of specialist Porphyria centres - effects on diagnostic activities and services [PDF]

, 2012
Background: The porphyrias are a heterogeneous group of rare metabolic diseases. The full spectrum of porphyria diagnostics is usually performed by specialized porphyria laboratories or centres.
Aarsand, Aasne K., Deybach, Jean-Charles, European Porphyria Network, Marsden, Joanne, Sandberg, Sverre, Støle, Egil, To-Figueras, Jordi, Tollånes, Mette Christophersen, Villanger, Jørild Haugen   +8 more
core   +2 more sources

Poster Sessions

HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source

Porphyria in Sweden and South Africa [PDF]

, 2018
No ...
Barnes, H.D., Dean, Geoffery
core   +1 more source

Variegate porphyria in South Africa, 1688 - 1996 - new developments in an old disease [PDF]

, 2017
Variegate porphyria, an autosomal dominant inherited trait resulting in decreased activity of protoporphyrinogen oxidase, the penuttimate haem biosynthetic enzyme, is characterised clinically by photosensitive skin disease and a propensity to acute ...
Corrigall, Anne V., Dailey, Harry A., Davidson, Brandon P., Hift, Richard J., Kirsch, Ralph E., Meissner, Doreen M., Meissner, Peter N., Petersen, Lavinia A., Sutherland, Jean, Ziman, Mel R.   +9 more
core   +1 more source

Bile and faecal porphyrins in the quiescent phase of variegate porphyria [PDF]

, 1968
Sean C. Smith, R.V. Belcher, R. Mahler, John Yudkin   +3 more
openalex   +1 more source