Showing results (21-30 of 53) with videos related to

Sort By:
Pageof 6
Orphanet Journal of Rare Diseases|December 12, 2012
Establishing a network of specialist Porphyria centres - effects on diagnostic activities and servicesMette C Tollånes, Aasne K Aarsand, Jørild Haugen Villanger, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|May 30, 2024
Exploring current and emerging therapies for porphyriasDaniel Jericó, Karol M Córdoba, Francesco Urigo, et al.
Human Heredity|February 5, 2003
Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patientsXiaoye Schneider-Yin, Martin Hergersberg, David E Goldgar, et al.
Clinical Chemistry|September 23, 2011
European specialist porphyria laboratories: diagnostic strategies, analytical quality, clinical interpretation, and reporting as assessed by an external quality assurance programAasne K Aarsand, Jørild H Villanger, Egil Støle, et al.
Analytical Chemistry|January 21, 2014
Urinary metabolic fingerprint of acute intermittent porphyria analyzed by (1)H NMR spectroscopyMickael Carichon, Nicolas Pallet, Caroline Schmitt, et al.
European Journal of Pediatrics|February 11, 2005
Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease)Sophie Dupuis-Girod, Véronique Akkari, Cécile Ged, et al.
Biochemistry|August 25, 2015
Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product ReleaseErica J Fratz, Jerome Clayton, Gregory A Hunter, et al.
Blood|September 28, 2006
Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient miceSaïd Lyoumi, Marie Abitbol, Valérie Andrieu, et al.
Gastroenterology|January 30, 2007
Genetic study of variation in normal mouse iron homeostasis reveals ceruloplasmin as an HFE-hemochromatosis modifier geneLaurent Gouya, Francoise Muzeau, Anne-Marie Robreau, et al.
Kidney International|April 2, 2015
High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyriaNicolas Pallet, Iadh Mami, Caroline Schmitt, et al.
Pageof 6