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The Journal of Biological Chemistry|June 15, 2004
Crystal structure of the oxygen-dependant coproporphyrinogen oxidase (Hem13p) of Saccharomyces cerevisiaeJohn D Phillips, Frank G Whitby, Christy A Warby, et al.Plos One|September 24, 2016
The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea TardaColin P Farrell, Jessica R Overbey, Hetanshi Naik, et al.Human Molecular Genetics|January 8, 2019
Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyriaMakiko Yasuda, Lin Gan, Brenden Chen, et al.Cell Metabolism|August 6, 2008
The hepcidin-binding site on ferroportin is evolutionarily conservedIvana De Domenico, Elizabeta Nemeth, Jenifer M Nelson, et al.JIMD Reports|November 20, 2019
Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X-linked protoporphyriaHetanshi Naik, Jessica R Overbey, Robert J Desnick, et al.Cell|September 17, 2004
Identification of a human heme exporter that is essential for erythropoiesisJohn G Quigley, Zhantao Yang, Mark T Worthington, et al.Blood Cells, Molecules & Diseases|May 2, 2017
Two novel mutations in TMPRSS6 associated with iron-refractory iron deficiency anemia in a mother and childHassan M Yaish, Colin P Farrell, Robert D Christensen, et al.Clinical Chemistry|October 21, 2015
Pitfalls in Erythrocyte Protoporphyrin Measurement for Diagnosis and Monitoring of ProtoporphyriasEric W Gou, Manisha Balwani, D Montgomery Bissell, et al.JAMA Dermatology|June 15, 2017
Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked ProtoporphyriaManisha Balwani, Hetanshi Naik, Karl E Anderson, et al.Molecular Medicine (Cambridge, Mass.)|February 1, 2013
Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyriaManisha Balwani, Dana Doheny, David F Bishop, et al.Pageof 10