BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

170 related articles for article (PubMed ID: 23673504)

  • 1. Photosensitivity in the elderly-think of late-onset protoporphyria.
    Frank J; Poblete-Gutiérrez P; Neumann NJ
    J Invest Dermatol; 2013 Jun; 133(6):1467-71. PubMed ID: 23673504
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Late-onset X-linked dominant protoporphyria: an etiology of photosensitivity in the elderly.
    Livideanu CB; Ducamp S; Lamant L; Gouya L; Rauzy OB; Deybach JC; Paul C; Puy H; Marguery MC
    J Invest Dermatol; 2013 Jun; 133(6):1688-90. PubMed ID: 23223129
    [No Abstract]   [Full Text] [Related]  

  • 3. X-linked dominant protoporphyria: The first reported Japanese case.
    Ninomiya Y; Kokunai Y; Tanizaki H; Akasaka E; Nakano H; Moriwaki S
    J Dermatol; 2016 Apr; 43(4):414-8. PubMed ID: 26387792
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. X-linked dominant protoporphyria: a new porphyria.
    Seager MJ; Whatley SD; Anstey AV; Millard TP
    Clin Exp Dermatol; 2014 Jan; 39(1):35-7. PubMed ID: 24131146
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Inheritance in erythropoietic protoporphyria].
    Schmitt C; Ducamp S; Gouya L; Deybach JC; Puy H
    Pathol Biol (Paris); 2010 Oct; 58(5):372-80. PubMed ID: 20850938
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP).
    Ducamp S; Schneider-Yin X; de Rooij F; Clayton J; Fratz EJ; Rudd A; Ostapowicz G; Varigos G; Lefebvre T; Deybach JC; Gouya L; Wilson P; Ferreira GC; Minder EI; Puy H
    Hum Mol Genet; 2013 Apr; 22(7):1280-8. PubMed ID: 23263862
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Annular elastolytic giant cell granuloma associated to late-onset X-linked dominant protoporphyria.
    García-Martínez FJ; Gutiérrez-González E; Alonso-González J; Vega A; Santamariña M; Rodríguez-Granados MT; Toribio J
    Dermatology; 2013; 227(3):238-42. PubMed ID: 24135682
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The molecular genetics of erythropoietic protoporphyria.
    Elder GH; Gouya L; Whatley SD; Puy H; Badminton MN; Deybach JC
    Cell Mol Biol (Noisy-le-grand); 2009 Jul; 55(2):118-26. PubMed ID: 19656460
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Genetic study in a Singaporean patient with erythropoietic protoporphyria.
    Chuah SY; Tee SI; Pramono ZA; Theng CT
    Photodermatol Photoimmunol Photomed; 2012 Oct; 28(5):269-71. PubMed ID: 22971195
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Acquired erythropoietic protoporphyria: A systematic review of the literature.
    Snast I; Kaftory R; Sherman S; Edel Y; Hodak E; Levi A; Lapidoth M
    Photodermatol Photoimmunol Photomed; 2020 Jan; 36(1):29-33. PubMed ID: 31374130
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells.
    Goodwin RG; Kell WJ; Laidler P; Long CC; Whatley SD; McKinley M; Badminton MN; Burnett AK; Williams GT; Elder GH
    Blood; 2006 Jan; 107(1):60-2. PubMed ID: 16150949
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product Release.
    Fratz EJ; Clayton J; Hunter GA; Ducamp S; Breydo L; Uversky VN; Deybach JC; Gouya L; Puy H; Ferreira GC
    Biochemistry; 2015 Sep; 54(36):5617-31. PubMed ID: 26300302
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria.
    Bishop DF; Tchaikovskii V; Nazarenko I; Desnick RJ
    Mol Med; 2013 Mar; 19(1):18-25. PubMed ID: 23348515
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Case of late-onset erythropoietic protoporphyria with myelodysplastic syndrome who has homozygous IVS3-48C polymorphism in the ferrochelatase gene.
    Suzuki H; Kikuchi K; Fukuhara N; Nakano H; Aiba S
    J Dermatol; 2017 Jun; 44(6):651-655. PubMed ID: 28026050
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Evidence-based consensus guidelines for the diagnosis and management of protoporphyria-related liver dysfunction in erythropoietic protoporphyria and X-linked protoporphyria.
    Levy C; Dickey AK; Wang B; Thapar M; Naik H; Keel SB; Saberi B; Beaven SW; Rudnick SR; Elmariah SB; Erwin AL; Goddu RJ; Hedstrom K; Leaf RK; Kazamel M; Mazepa M; Philpotts LL; Quigley J; Raef H; Ungar J; Anderson KE; Balwani M;
    Hepatology; 2024 Mar; 79(3):731-743. PubMed ID: 37505211
    [No Abstract]   [Full Text] [Related]  

  • 20. Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members.
    Berroeta L; Man I; Goudie DR; Whatley SD; Elder GH; Ibbotson SH
    Br J Dermatol; 2007 Nov; 157(5):1030-1. PubMed ID: 17711525
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.