PMC Links for Books (Select 4951512) - PMC

Select item 72554591.

EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks

Laurent Gouya, Paolo Ventura, Manisha Balwani, D. Montgomery Bissell, David C. Rees, Ulrich Stölzel, John D. Phillips, Raili Kauppinen, Janneke G. Langendonk, Robert J. Desnick, Jean‐Charles Deybach, Herbert L. Bonkovsky, Charles Parker, Hetanshi Naik, Michael Badminton, Penelope E. Stein, Elisabeth Minder, Jerzy Windyga, Radan Bruha, Maria Domenica Cappellini, Eliane Sardh, Pauline Harper, Sverre Sandberg, Aasne K. Aarsand, Janice Andersen, Félix Alegre, Aneta Ivanova, Neila Talbi, Amy Chan, William Querbes, John Ko, Craig Penz, Shangbin Liu, Tim Lin, Amy Simon, Karl E. Anderson

Hepatology. 2020 May; 71(5): 1546–1558. Published online 2019 Nov 7. doi: 10.1002/hep.30936

PMCID:: PMC7255459

Abstract Article PDF–461K

Select item 72295702.

International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias

Brenden Chen, Sharon Whatley, Michael Badminton, Aasne K. Aarsand, Karl E. Anderson, D. Montgomery Bissell, Herbert L. Bonkovsky, Maria D. Cappellini, Ylva Floderus, Edith C. H. Friesema, Laurent Gouya, Pauline Harper, Raili Kauppinen, Yonina Loskove, Pavel Martásek, John D. Phillips, Hervé Puy, Sverre Sandberg, Caroline Schmitt, Jordi To-Figueras, Yedidyah Weiss, Makiko Yasuda, Jean-Charles Deybach, Robert J. Desnick

Genet Med. Author manuscript; available in PMC 2020 May 16.

Published in final edited form as: Genet Med. 2019 Nov; 21(11): 2605–2613. Published online 2019 May 10. doi: 10.1038/s41436-019-0537-7

PMCID:: PMC7229570

Abstract Article PDF–353K

Select item 70600903.

Evaluating the Patient Reported Outcomes Measurement Information System Scales in Acute Intermittent Porphyria

Hetanshi Naik, Jessica R. Overbey, Guy H. Montgomery, Gary Winkel, Manisha Balwani, Karl E. Anderson, D. Montgomery Bissell, Herbert L. Bonkovsky, John D. Phillips, Bruce Wang, Brendan McGuire, Siobán Keel, Cynthia Levy, Angelika Erwin, Robert J. Desnick

Genet Med. Author manuscript; available in PMC 2020 May 6.

Published in final edited form as: Genet Med. 2020 Mar; 22(3): 590–597. Published online 2019 Nov 6. doi: 10.1038/s41436-019-0683-y

PMCID:: PMC7060090

Abstract Article PDF–567K

Select item 45638034.

Acute Porphyrias in the USA: Features of 108 Subjects from Porphyria Consortium

Herbert L. Bonkovsky, Vinaya C. Maddukuri, Cemal Yazici, Karl E. Anderson, D. Montgomery Bissell, Joseph R. Bloomer, John D. Phillips, Hetanshi Naik, Inga Peter, Gwen Baillargeon, Krista Bossi, Laura Gandolfo, Carrie Light, David Bishop, Robert J. Desnick

Am J Med. Author manuscript; available in PMC 2015 Dec 1.

Published in final edited form as: Am J Med. 2014 Dec; 127(12): 1233–1241. Published online 2014 Jul 10. doi: 10.1016/j.amjmed.2014.06.036

PMCID:: PMC4563803

Abstract Article PDF–672K

Select item 44462355.

Features and Outcomes of 899 Patients with Drug-induced Liver Injury: The DILIN Prospective Study

N Chalasani, HL Bonkovsky, R Fontana, W Lee, A Stolz, J Talwalkar, KR Reddy, PB Watkins, V Navarro, H Barnhart, J Gu, J Serrano, for the United States Drug Induced Liver Injury Network

Gastroenterology. Author manuscript; available in PMC 2016 Jun 1.

Published in final edited form as: Gastroenterology. 2015 Jun; 148(7): 1340–1352.e7. Published online 2015 Mar 6. doi: 10.1053/j.gastro.2015.03.006

PMCID:: PMC4446235

Abstract Article PDF–546K

Select item 43394466.

Role of delta-Aminolevulinic Acid in the Symptoms of Acute Porphyria

D. Montgomery Bissell, Jennifer C. Lai, Raymond K. Meister, Paul D. Blanc

Am J Med. Author manuscript; available in PMC 2016 Mar 1.

Published in final edited form as: Am J Med. 2015 Mar; 128(3): 313–317. Published online 2014 Nov 8. doi: 10.1016/j.amjmed.2014.10.026

PMCID:: PMC4339446

Abstract Article PDF–577K

Select item 40405637.

RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice

Makiko Yasuda, Lin Gan, Brenden Chen, Senkottuvelan Kadirvel, Chunli Yu, John D. Phillips, Maria I. New, Abigail Liebow, Kevin Fitzgerald, William Querbes, Robert J. Desnick

Proc Natl Acad Sci U S A. 2014 May 27; 111(21): 7777–7782. Published online 2014 May 12. doi: 10.1073/pnas.1406228111

PMCID:: PMC4040563

Abstract Article PDF–778K

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