BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

186 related articles for article (PubMed ID: 36406817)

  • 1. A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria.
    Balwani M; Naik H; Overbey JR; Bonkovsky HL; Bissell DM; Wang B; Phillips JD; Desnick RJ; Anderson KE
    Mol Genet Metab Rep; 2022 Dec; 33():100939. PubMed ID: 36406817
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria.
    Balwani M; Naik H; Anderson KE; Bissell DM; Bloomer J; Bonkovsky HL; Phillips JD; Overbey JR; Wang B; Singal AK; Liu LU; Desnick RJ
    JAMA Dermatol; 2017 Aug; 153(8):789-796. PubMed ID: 28614581
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.
    Balwani M; Doheny D; Bishop DF; Nazarenko I; Yasuda M; Dailey HA; Anderson KE; Bissell DM; Bloomer J; Bonkovsky HL; Phillips JD; Liu L; Desnick RJ;
    Mol Med; 2013 Apr; 19(1):26-35. PubMed ID: 23364466
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Homeostasis of iron and hepcidin in erythropoietic protoporphyria.
    Bossi K; Lee J; Schmeltzer P; Holburton E; Groseclose G; Besur S; Hwang S; Bonkovsky HL
    Eur J Clin Invest; 2015 Oct; 45(10):1032-41. PubMed ID: 26199063
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Effects of iron supplements in individuals with erythropoietic protoporphyria.
    Heerfordt IM; Lerche CM; Philipsen PA; Wulf HC
    Photodiagnosis Photodyn Ther; 2024 Jun; 47():104211. PubMed ID: 38734198
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
    Weiss Y; Balwani M; Chen B; Yasuda M; Nazarenko I; Desnick RJ
    Mol Genet Metab; 2019 Nov; 128(3):358-362. PubMed ID: 30454868
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Delta-aminolevulinic acid synthase 2 expression in combination with iron as modifiers of disease severity in erythropoietic protoporphyria.
    Barman-Aksözen J; Halloy F; Iyer PS; Schümperli D; Minder AE; Hall J; Minder EI; Schneider-Yin X
    Mol Genet Metab; 2019 Nov; 128(3):304-308. PubMed ID: 31076252
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management.
    Balwani M
    Mol Genet Metab; 2019 Nov; 128(3):298-303. PubMed ID: 30704898
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Recognized and Emerging Features of Erythropoietic and X-Linked Protoporphyria.
    Di Pierro E; Granata F; De Canio M; Rossi M; Ricci A; Marcacci M; De Luca G; Sarno L; Barbieri L; Ventura P; Graziadei G
    Diagnostics (Basel); 2022 Jan; 12(1):. PubMed ID: 35054318
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Experimental and approved treatments for skin photosensitivity in individuals with erythropoietic protoporphyria or X-linked protoporphyria: A systematic review.
    Heerfordt IM; Lerche CM; Philipsen PA; Wulf HC
    Biomed Pharmacother; 2023 Feb; 158():114132. PubMed ID: 36525819
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Erythropoietic protoporphyria.
    Lecha M; Puy H; Deybach JC
    Orphanet J Rare Dis; 2009 Sep; 4():19. PubMed ID: 19744342
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Beyond pigmentation: signs of liver protection during afamelanotide treatment in Swiss patients with erythropoietic protoporphyria, an observational study.
    Minder AE; Barman-Aksoezen J; Schmid M; Minder EI; Zulewski H; Minder CE; Schneider-Yin X
    Ther Adv Rare Dis; 2021; 2():26330040211065453. PubMed ID: 37181106
    [TBL] [Abstract][Full Text] [Related]  

  • 13. How I treat erythropoietic protoporphyria and X-linked protoporphyria.
    Leaf RK; Dickey AK
    Blood; 2023 Jun; 141(24):2921-2931. PubMed ID: 36898083
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X-linked protoporphyria.
    Naik H; Overbey JR; Desnick RJ; Anderson KE; Bissell DM; Bloomer J; Bonkovsky HL; Phillips JD; Wang B; Singal A; Balwani M
    JIMD Rep; 2019 Nov; 50(1):9-19. PubMed ID: 31741822
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Longitudinal Analysis of Erythrocyte and Plasma Protoporphyrin Levels in Patients with Protoporphyria.
    Gou E; Weng C; Greene T; Anderson KE; Phillips JD
    J Appl Lab Med; 2018 Sep; 3(2):213-221. PubMed ID: 33636932
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Illuminating Dersimelagon: A Novel Agent in the Treatment of Erythropoietic Protoporphyria and X-Linked Protoporphyria.
    Madigan KE; Rudnick SR; Agnew MA; Urooj N; Bonkovsky HL
    Pharmaceuticals (Basel); 2023 Dec; 17(1):. PubMed ID: 38256864
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria.
    Holme SA; Worwood M; Anstey AV; Elder GH; Badminton MN
    Blood; 2007 Dec; 110(12):4108-10. PubMed ID: 17804693
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Excessive erythrocyte PPIX influences the hematologic status and iron metabolism in patients with dominant erythropoietic protoporphyria.
    Delaby C; Lyoumi S; Ducamp S; Martin-Schmitt C; Gouya L; Deybach JC; Beaumont C; Puy H
    Cell Mol Biol (Noisy-le-grand); 2009 Feb; 55(1):45-52. PubMed ID: 19268001
    [TBL] [Abstract][Full Text] [Related]  

  • 19. In ferrochelatase-deficient protoporphyria patients, ALAS2 expression is enhanced and erythrocytic protoporphyrin concentration correlates with iron availability.
    Barman-Aksözen J; Minder EI; Schubiger C; Biolcati G; Schneider-Yin X
    Blood Cells Mol Dis; 2015 Jan; 54(1):71-7. PubMed ID: 25179834
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.
    Ventura P; Brancaleoni V; Di Pierro E; Graziadei G; Macrì A; Carmine Guida C; Nicolli A; Rossi MT; Granata F; Fiorentino V; Fustinoni S; Sala R; Pinton PC; Trevisan A; Marchini S; Cuoghi C; Marcacci M; Corradini E; Sorge F; Aurizi C; Savino MG; Cappellini MD; Pietrangelo A
    Eur J Dermatol; 2020 Oct; 30(5):532-540. PubMed ID: 33021473
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.