PMC Links for Books (Select 3011808) - PMC

Select item 56802881.

An Audit of the Use of Gonadorelin Analogues to Prevent Recurrent Acute Symptoms in Patients with Acute Porphyria in the United Kingdom

Danja Schulenburg-Brand, Tricia Gardiner, Simon Guppy, David C. Rees, Penelope Stein, Julian Barth, M. Felicity Stewart, Michael Badminton

JIMD Rep. 2017; 36: 99–107. Published online 2017 Feb 21. doi: 10.1007/8904_2017_2

PMCID:: PMC5680288

Abstract Article PDF–133K

Select item 56054222.

Acute Hepatic Porphyrias: Recommendations for Evaluation and Long Term Management

Manisha Balwani, Bruce Wang, Karl E. Anderson, Joseph R. Bloomer, D. Montgomery Bissell, Herbert L. Bonkovsky, John D. Phillips, Robert J. Desnick

Hepatology. Author manuscript; available in PMC 2018 Oct 1.

Published in final edited form as: Hepatology. 2017 Oct; 66(4): 1314–1322. Published online 2017 Sep 4. doi: 10.1002/hep.29313

PMCID:: PMC5605422

Abstract Article PDF–418K

Select item 49533213.

King George III, bipolar disorder, porphyria and lessons for historians

Timothy Peters

Clin Med (Lond) 2011 Jun; 11(3): 261–264. doi: 10.7861/clinmedicine.11-3-261

PMCID:: PMC4953321

Abstract Article PDF–104K

Select item 47319254.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 44862725.

Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms

Joanne T. Marsden, Simon Guppy, Penelope Stein, Timothy M. Cox, Michael Badminton, Tricia Gardiner, Julian H. Barth, M. Felicity Stewart, David C. Rees

JIMD Rep. 2015; 22: 57–65. Published online 2015 Mar 12. doi: 10.1007/8904_2015_411

PMCID:: PMC4486272

Abstract Article PDF–257K

Select item 35545556.

Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria

Michela Barbaro, Maire Kotajärvi, Pauline Harper, Ylva Floderus

Orphanet J Rare Dis. 2013; 8: 13. Published online 2013 Jan 16. doi: 10.1186/1750-1172-8-13

PMCID:: PMC3554555

Abstract Article PDF–897K

Select item 34720267.

Liver Transplantation for Acute Intermittent Porphyria is Complicated by a High Rate of Hepatic Artery Thrombosis

Joanna K Dowman, Bridget K Gunson, Darius F Mirza, Simon R Bramhall, Mike N Badminton, Philip N Newsome, on behalf of the UK Liver Selection and Allocation Working Party

Liver Transpl. 2012 Feb; 18(2): 195–200. Published online 2012 Jan 25. doi: 10.1002/lt.22345

PMCID:: PMC3472026

Abstract Article PDF–379K

Select item 12882698.

Variegate Porphyria in Western Europe: Identification of PPOX Gene Mutations in 104 Families, Extent of Allelic Heterogeneity, and Absence of Correlation between Phenotype and Type of Mutation

Sharon D. Whatley, Hervé Puy, Rhian R. Morgan, Anne-Marie Robreau, Andrew G. Roberts, Yves Nordmann, George H. Elder, Jean-Charles Deybach

Am J Hum Genet. 1999 Oct; 65(4): 984–994. Published online 1999 Sep 9. doi: 10.1086/302586

PMCID:: PMC1288269

Abstract Article PDF–266K

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