207 related articles for article (PubMed ID: 31154864)
1. A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.
Barman-Aksözen J; Suter L; Wegmann F; Meienberg J; Minder AE; Beer M; Komminoth P; Minder EI; Schneider-Yin X
Scand J Clin Lab Invest; 2019 Sep; 79(5):305-313. PubMed ID: 31154864
[TBL] [Abstract][Full Text] [Related]
2. Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.
Loskove Y; Yasuda M; Chen B; Nazarenko I; Cody N; Desnick RJ
Mol Genet Metab; 2019 Nov; 128(3):352-357. PubMed ID: 30385147
[TBL] [Abstract][Full Text] [Related]
3. Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene.
Whatley SD; Mason NG; Woolf JR; Newcombe RG; Elder GH; Badminton MN
Clin Chem; 2009 Jul; 55(7):1406-14. PubMed ID: 19460837
[TBL] [Abstract][Full Text] [Related]
4. Pathogenesis and clinical features of the acute hepatic porphyrias (AHPs).
Bonkovsky HL; Dixon N; Rudnick S
Mol Genet Metab; 2019 Nov; 128(3):213-218. PubMed ID: 30987916
[TBL] [Abstract][Full Text] [Related]
5. Hepatic porphyrias in children.
Elder GH
J Inherit Metab Dis; 1997 Jun; 20(2):237-46. PubMed ID: 9211196
[TBL] [Abstract][Full Text] [Related]
6. International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Chen B; Whatley S; Badminton M; Aarsand AK; Anderson KE; Bissell DM; Bonkovsky HL; Cappellini MD; Floderus Y; Friesema ECH; Gouya L; Harper P; Kauppinen R; Loskove Y; Martásek P; Phillips JD; Puy H; Sandberg S; Schmitt C; To-Figueras J; Weiss Y; Yasuda M; Deybach JC; Desnick RJ
Genet Med; 2019 Nov; 21(11):2605-2613. PubMed ID: 31073229
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.
Gouya L; Puy H; Robreau AM; Lyoumi S; Lamoril J; Da Silva V; Grandchamp B; Deybach JC
Hum Genet; 2004 Feb; 114(3):256-62. PubMed ID: 14669009
[TBL] [Abstract][Full Text] [Related]
9. Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.
Yasuda M; Desnick RJ
Mol Genet Metab; 2019 Nov; 128(3):332-341. PubMed ID: 30737139
[TBL] [Abstract][Full Text] [Related]
10. Risk of primary liver cancer in acute hepatic porphyria patients: A matched cohort study of 1244 individuals.
Lissing M; Vassiliou D; Floderus Y; Harper P; Bottai M; Kotopouli M; Hagström H; Sardh E; Wahlin S
J Intern Med; 2022 Jun; 291(6):824-836. PubMed ID: 35112415
[TBL] [Abstract][Full Text] [Related]
11. 5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin.
Lahiji AP; Anderson KE; Chan A; Simon A; Desnick RJ; Ramanujam VMS
Mol Genet Metab; 2020 Dec; 131(4):418-423. PubMed ID: 33199206
[TBL] [Abstract][Full Text] [Related]
12. 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.
Whatley SD; Puy H; Morgan RR; Robreau AM; Roberts AG; Nordmann Y; Elder GH; Deybach JC
Am J Hum Genet; 1999 Oct; 65(4):984-94. PubMed ID: 10486317
[TBL] [Abstract][Full Text] [Related]
13. Molecular characterization of porphyrias in Italy: a diagnostic flow-chart.
Martinez di Montemuros F; Di Pierro E; Patti E; Tavazzi D; Danielli MG; Biolcati G; Rocchi E; Cappellini MD
Cell Mol Biol (Noisy-le-grand); 2002 Dec; 48(8):867-76. PubMed ID: 12699245
[TBL] [Abstract][Full Text] [Related]
14. Acute porphyrias - A neurological perspective.
Gerischer LM; Scheibe F; Nümann A; Köhnlein M; Stölzel U; Meisel A
Brain Behav; 2021 Nov; 11(11):e2389. PubMed ID: 34661997
[TBL] [Abstract][Full Text] [Related]
15. PICO questions and DELPHI methodology for improving the management of patients with acute hepatic porphyria.
Riera-Mestre A; García Morillo JS; Castelbón Fernández J; Hernández-Contreras ME; Aguilera Peiró P; Jacob J; Martínez Valle F; Guillén-Navarro E; Morales-Conejo M
Rev Clin Esp (Barc); 2024 May; 224(5):272-280. PubMed ID: 38642893
[TBL] [Abstract][Full Text] [Related]
16. Human hereditary hepatic porphyrias.
Nordmann Y; Puy H
Clin Chim Acta; 2002 Nov; 325(1-2):17-37. PubMed ID: 12367763
[TBL] [Abstract][Full Text] [Related]
17. Givosiran for the treatment of acute hepatic porphyria.
Ricci A; Ventura P
Expert Rev Clin Pharmacol; 2022 Apr; 15(4):383-393. PubMed ID: 35531651
[TBL] [Abstract][Full Text] [Related]
18. Expert consensus statement on acute hepatic porphyria in Belgium.
Gilles A; Vermeersch S; Vermeersch P; Wolff F; Cotton F; Tilleux S; Cassiman D
Acta Clin Belg; 2022 Aug; 77(4):735-741. PubMed ID: 34369323
[TBL] [Abstract][Full Text] [Related]
19. Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives.
Marcacci M; Ricci A; Cuoghi C; Marchini S; Pietrangelo A; Ventura P
Orphanet J Rare Dis; 2022 Apr; 17(1):160. PubMed ID: 35392955
[TBL] [Abstract][Full Text] [Related]
20. Acute hepatic porphyria and cancer risk: a nationwide cohort study.
Baravelli CM; Sandberg S; Aarsand AK; Nilsen RM; Tollånes MC
J Intern Med; 2017 Sep; 282(3):229-240. PubMed ID: 28730628
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
