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Liver involvement in a large cohort of patients with erythropoietic protoporphyria or X-linked protoporphyria Levy, Cynthia; Naik, Hetanshi; Overbey, Jessica; Hedstrom, Karli; Wang, Kelly; Mcdonough, Catherine; Freeman, Mary; Keel, Sioban B.; Erwin, Angelika L.; Dickey, Amy K.; Leaf, Rebecca K.; Quigley, John; Mazepa, Marshall; Wang, Bruce; Phillips, John; Parker, Charles; Mcguire, Brendan; Kazamel, Mohamed; Bonkovsky, Herbert; Rudnick, Sean; Anderson, Karl E.; Moghe, Akshata; Thapar, Manish; Saberi, Behnam; Wheeden, Kristen; Desnick, Robert; Balwani, Manisha; Porphyrias Consortium of the Rare Diseases Clinical Res Network Share Save
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Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation van Loggerenberg, Warren; Sowlati-Hashjin, Shahin; Weile, Jochen; Hamilton, Rayna; Chawla, Aditya; Sheykhkarimli, Dayag; Gebbia, Marinella; Kishore, Nishka; Fresard, Laure; Mustajoki, Sami; Pischik, Elena; Di Pierro, Elena; Barbaro, Michela; Floderus, Ylva; Schmitt, Caroline; Gouya, Laurent; Colavin, Alexandre; Nussbaum, Robert; Friesema, Edith C. H.; Kauppinen, Raili; To-Figueras, Jordi; Aarsand, Aasne K.; Desnick, Robert J.; Garton, Michael; Roth, Frederick P. Share Save
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ZFN-mediated in vivo gene editing in hepatocytes leads to supraphysiologic α-Gal A activity and effective substrate reduction in Fabry mice Pagant, Silvere; Huston, Marshall W.; Moreira, Luciana; Gan, Lin; St Martin, Susan; Sproul, Scott; Holmes, Michael C.; Meyer, Kathleen; Wechsler, Thomas; Desnick, Robert J.; Yasuda, Makiko Share Save
Erythropoietic protoporphyria: time to prodrome, the warning signal to exit sun exposure without pain-a patient-reported outcome efficacy measure Wensink, D.; Langendonk, J. G.; Overbey, J. R.; Balwani, M.; Van Broekhoven, E. J. E.; Wagenmakers, M. A. E. M.; Wilson, J. H. P.; Wheeden, K.; Naik, H.; Desnick, R. J. Share Save
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Hepatocellular Carcinoma in Acute Hepatic Porphyrias: Results from the Longitudinal Study of the US Porphyrias Consortium Saberi, Behnam; Naik, Hetanshi; Overbey, Jessica R.; Erwin, Angelika L.; Anderson, Karl E.; Bissell, D. Montgomery; Bonkovsky, Herbert L.; Phillips, John D.; Wang, Bruce; Singal, Ashwani K.; McGuire, Brendan M.; Desnick, Robert J.; Balwani, Manisha Share Save
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Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release Bailey, Henry J.; Bezerra, Gustavo A.; Marcero, Jason R.; Padhi, Siladitya; Foster, William R.; Rembeza, Elzbieta; Roy, Arijit; Bishop, David F.; Desnick, Robert J.; Bulusu, Gopalakrishnan; Dailey, Harry A., Jr.; Yue, Wyatt W. Share Save
Agalsidase beta treatment slows estimated glomerular filtration rate loss in classic Fabry disease patients: results from an individual patient data meta-analysis Ortiz, Alberto; Kanters, Steve; Hamed, Alaa; DasMahapatra, Pronabesh; Poggio, Eugene; Maski, Manish; Aguiar, Mario; Ponce, Elvira; Jansen, Jeroen P.; Ayers, Dieter; Goldgrub, Rachel; Desnick, Robert J. Share Save
Severe hydroxymethylbilane synthase deficiency causes depression-like behavior and mitochondrial dysfunction in a mouse model of homozygous dominant acute intermittent porphyria Berger, Stefanie; Stattmann, Miranda; Cicvaric, Ana; Monje, Francisco J.; Coiro, Pierluca; Hotka, Matej; Ricken, Gerda; Hainfellner, Johannes; Greber-Platzer, Susanne; Yasuda, Makiko; Desnick, Robert J.; Pollak, Daniela D. Share Save
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