These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
6. Clinical, Biochemical and Molecular Characteristics of the Main Types of Porphyria. Szlendak U; Bykowska K; Lipniacka A Adv Clin Exp Med; 2016; 25(2):361-8. PubMed ID: 27627571 [TBL] [Abstract][Full Text] [Related]
7. Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias. Ramanujam VS; Anderson KE Curr Protoc Hum Genet; 2015 Jul; 86():17.20.1-17.20.26. PubMed ID: 26132003 [TBL] [Abstract][Full Text] [Related]
8. [Treatment of acute porphyrias. The importance of follow-up of patients and carriers]. Tasnádi G; Bor M; Pusztai A Orv Hetil; 2003 May; 144(19):933-8. PubMed ID: 12809070 [TBL] [Abstract][Full Text] [Related]
9. [Mutation diagnosis is a possibility for the half of the families with acute intermittent porphyria]. Anvret M; Lee JS; Lundin G Lakartidningen; 1991 Jul; 88(30-31):2513-4. PubMed ID: 1865718 [No Abstract] [Full Text] [Related]
10. Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria. Lee JS; Anvret M Proc Natl Acad Sci U S A; 1991 Dec; 88(23):10912-5. PubMed ID: 1961762 [TBL] [Abstract][Full Text] [Related]
16. Liver transplantation in the management of porphyria. Singal AK; Parker C; Bowden C; Thapar M; Liu L; McGuire BM Hepatology; 2014 Sep; 60(3):1082-9. PubMed ID: 24700519 [TBL] [Abstract][Full Text] [Related]
17. Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes. Yasuda M; Chen B; Desnick RJ Mol Genet Metab; 2019 Nov; 128(3):320-331. PubMed ID: 30594473 [TBL] [Abstract][Full Text] [Related]
18. Medical and financial burden of acute intermittent porphyria. Neeleman RA; Wagenmakers MAEM; Koole-Lesuis RH; Mijnhout GS; Wilson JHP; Friesema ECH; Langendonk JG J Inherit Metab Dis; 2018 Sep; 41(5):809-817. PubMed ID: 29675607 [TBL] [Abstract][Full Text] [Related]
19. Role of genetic testing in the management of patients with inherited porphyria and their families. Whatley SD; Badminton MN Ann Clin Biochem; 2013 May; 50(Pt 3):204-16. PubMed ID: 23605133 [TBL] [Abstract][Full Text] [Related]
20. Clinical Guide and Update on Porphyrias. Stölzel U; Doss MO; Schuppan D Gastroenterology; 2019 Aug; 157(2):365-381.e4. PubMed ID: 31085196 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]