Results 101 to 110 of about 6,798 (210)

Acute hepatic porphyrias: Current diagnosis & management

Molecular Genetics and Metabolism, 2019
Each of the four acute hepatic porphyrias is due to mutation of an enzyme in the heme biosynthetic pathway. The accumulation of pathway intermediates that occur most notably when these diseases are active is the basis for screening and establishing a biochemical diagnosis of these rare disorders.
openaire   +3 more sources

Transient and intensive pharmacological immunosuppression fails to improve AAV-based liver gene transfer in non-human primates [PDF]

, 2012
BACKGROUND: Adeno-associated vectors (rAAV) have been used to attain long-term liver gene expression. In humans, the cellular immune response poses a serious obstacle for transgene persistence while neutralizing humoral immunity curtails re ...
Alfaro, C. (Carlos), Beattie, S.G. (Stuart G.), Benito, A. (Alberto), Fontanellas, A. (Antonio), Hervas-Stubbs, S. (Sandra), Mancheño, U. (Uxua), Mauleon, I. (Itsaso), Melero, I. (Ignacio), Pety, H. (Harald), Prieto, J. (Jesús), Salamanca, E. (Enrique) de, Sampedro, A. (Ana), Unzu, C. (Carmen)   +12 more
core  

Photosensitivity Skin Disorders in Childhood [PDF]

, 2010
Photosensitivity in childhood is caused by a diverse group of diseases. A specific sensitivity of a child’s skin to ultraviolet light is often the first manifestation or a clinical symptom of photodermatosis.
Ines Sjerobabski-Masnec, Lena Kotrulja, Mirna Šitum, Sanja Poduje, Suzana Ožanić-Bulić   +4 more
core   +1 more source

Hepatitis C virus syndrome: A constellation of organ- and non-organ specific autoimmune disorders, B-cell non-Hodgkin's lymphoma, and cancer [PDF]

, 2015
The clinical course of chronic hepatitis C virus (HCV) infection is characterized by possible development of both liver and extrahepatic disorders. The tropism of HCV for the lymphoid tissue is responsible for several immune-mediated disorders; a poly ...
Antonelli, Alessandro, Colaci, Michele, Fallahi, Poupak, Ferri, Clodoveo, Giuggioli, Dilia, Piluso, Alessia, Sebastiani, Marco, Zignego, Anna Linda   +7 more
core   +1 more source

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley   +1 more source

The Development of a Direct Homologous Radioimmunoassay for Serum Cortisol [PDF]

, 1981
Peer ...
Giesemann, G., Müller, O. A., Scriba, Peter Christian, Stalla, G., Wood, W. G.   +4 more
core   +2 more sources

Exacerbation of erythropoietic protoporphyria by hyperthyroidism [PDF]

, 2018
Erythropoietic protoporphyria (EPP) is a hereditary disorder caused by deficiency of ferrochelatase, the last enzyme in the heme biosynthetic pathway. The majority of EPP patients present with a clinical symptom of painful phototoxicity.
Haldemann, Andreas, Minder, Elisabeth, Schneider-Yin, Xiaoye   +2 more
core  

Iron overload [PDF]

, 2015
The normal iron content of the body is 3---4 g. It exists in hemoglobin, in iron-containing proteins different to hemoglobin, in iron bound to transferrin in plasma, and in the form of ferritin and hemosiderin.
Marfil Rivera, Luis Javier
core   +1 more source

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  

Acute intermittent porphyria in a resource-limited setting: diagnostic pitfalls and emerging therapeutic perspectives

Journal of Rare Diseases
Background Acute intermittent porphyria (AIP) is a rare metabolic disorder caused by deficiency of hydroxymethylbilane synthase (HMBS), leading to accumulation of neurotoxic heme precursors. Its protean neurovisceral manifestations and the possibility of
Bhupender Arya, Pyrus Bhellum, Rajat Goyal, Avishek Sarangal, Gopal Krishana Bohra   +4 more
doaj   +1 more source