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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

179 related articles for article (PubMed ID: 22971195)

  • 1. 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]  

  • 2. Biochemical abnormality in erythropoietic protoporphyria: cause and consequences.
    Bloomer JR; Wang Y; Singhal A; Risheg H
    J Pediatr Gastroenterol Nutr; 2006 Jul; 43 Suppl 1():S36-40. PubMed ID: 16819399
    [TBL] [Abstract][Full Text] [Related]  

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

  • 4. A Novel Mutation in the FECH Gene in a Czech Family with Erythropoietic Protoporphyria and a Population Study of IVS3-48C Variant Contributing to the Disease.
    Farrag MS; Kučerová J; Šlachtová L; Šeda O; Šperl J; Martásek P
    Folia Biol (Praha); 2015; 61(6):227-32. PubMed ID: 26789144
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 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. A novel splicing mutation and haplotype analysis of the FECH gene in a Chinese family with erythropoietic protoporphyria.
    Ma J; Xiao S; An J; Wang X; Xu Q; Dong Y; Feng Y; Wang J
    J Eur Acad Dermatol Venereol; 2010 Jun; 24(6):726-9. PubMed ID: 19888946
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [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]  

  • 9. Ferrochelatase gene mutation in Singapore and a novel frame-shift mutation in an Asian boy with erythropoietic protoporphyria.
    Alagappan U; Pramono ZA; Chong WS
    Int J Dermatol; 2017 Mar; 56(3):272-276. PubMed ID: 28054335
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Identification of a ferrochelatase mutation in a Chinese family with erythropoietic protoporphyria.
    Kong XF; Ye J; Gao DY; Gong QM; Zhang DH; Lu ZM; Lu YM; Zhang XX
    J Hepatol; 2008 Feb; 48(2):375-9. PubMed ID: 18160121
    [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. Normal dermal ferrochelatase activity does not protect human skin from protoporphyrin-induced photosensitivity.
    Elder G
    J Invest Dermatol; 2005 Sep; 125(3):580; author reply 580-1. PubMed ID: 16117803
    [No Abstract]   [Full Text] [Related]  

  • 15. Prevention of murine erythropoietic protoporphyria-associated skin photosensitivity and liver disease by dermal and hepatic ferrochelatase.
    Pawliuk R; Tighe R; Wise RJ; Mathews-Roth MM; Leboulch P
    J Invest Dermatol; 2005 Jan; 124(1):256-62. PubMed ID: 15654982
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Liver disease and erythropoietic protoporphyria: a concise review.
    Casanova-González MJ; Trapero-Marugán M; Jones EA; Moreno-Otero R
    World J Gastroenterol; 2010 Sep; 16(36):4526-31. PubMed ID: 20857522
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation.
    Gouya L; Puy H; Lamoril J; Da Silva V; Grandchamp B; Nordmann Y; Deybach JC
    Blood; 1999 Mar; 93(6):2105-10. PubMed ID: 10068685
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family.
    Schneider-Yin X; Mamet R; Minder EI; Schoenfeld N
    J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S363-7. PubMed ID: 18758989
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Inherited genetic late-onset erythropoietic protoporphyria: A systematic review of the literature.
    Noyman Y; Edel Y; Snast I; Sherman S; Kaftory R; Lapidoth M; Mimouni D; Hodak E; Levi A
    Photodermatol Photoimmunol Photomed; 2021 Sep; 37(5):374-379. PubMed ID: 33556208
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.
    Gouya L; Martin-Schmitt C; Robreau AM; Austerlitz F; Da Silva V; Brun P; Simonin S; Lyoumi S; Grandchamp B; Beaumont C; Puy H; Deybach JC
    Am J Hum Genet; 2006 Jan; 78(1):2-14. PubMed ID: 16385445
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.