Protoporfiria erytropoetyczna (Polish Wikipedia)

Analysis of information sources in references of the Wikipedia article "Protoporfiria erytropoetyczna" in Polish language version.

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cf.ac.uk

hgmd.cf.ac.uk

  • HGMD®. [dostęp 2009-09-28]. (wymaga logowania)

clinuvel.com

doi.org

doi.org

  • M Lecha, H Puy, JC Deybach. Erythropoietic protoporphyria. „Orphanet J Rare Dis”. 4, s. 19, 2009. DOI: 10.1186/1750-1172-4-19. PMID: 19744342. 
  • HL Bonkowsky, JR Bloomer, PS Ebert, MJ Mahoney. Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts. „J Clin Invest”. 56 (5), s. 1139-48, Nov 1975. DOI: 10.1172/JCI108189. PMID: 1184741. 
  • JR Bloomer. Characterization of deficient heme synthase activity in protoporphyria with cultured skin fibroblasts. „J Clin Invest”. 65 (2), s. 321-8, Feb 1980. DOI: 10.1172/JCI109675. PMID: 7356682. 
  • SA Holme, AV Anstey, AY Finlay, GH Elder i inni. Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life. „Br J Dermatol”. 155 (3), s. 574-81, Sep 2006. DOI: 10.1111/j.1365-2133.2006.07472.x. PMID: 16911284. 
  • H Tsuboi, K Yonemoto, K Katsuoka. Erythropoietic protoporphyria with eye complications. „J Dermatol”. 34 (11), s. 790-4, Nov 2007. DOI: 10.1111/j.1346-8138.2007.00386.x. PMID: 17973823. 
  • SA Holme, M Worwood, AV Anstey, GH Elder i inni. Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria. „Blood”. 110 (12), s. 4108-10, Dec 2007. DOI: 10.1182/blood-2007-04-088120. PMID: 17804693. 
  • J Harms, S Lautenschlager, CE Minder, EI Minder. An alpha-melanocyte-stimulating hormone analogue in erythropoietic protoporphyria. „N Engl J Med”. 360 (3), s. 306-7, Jan 2009. DOI: 10.1056/NEJMc0805682. PMID: 19144952. 
  • JH Harms, S Lautenschlager, CE Minder, EI Minder. Mitigating Photosensitivity of Erythropoietic Protoporphyria Patients by an Agonistic Analog of alpha-Melanocyte Stimulating Hormone. „Photochem Photobiol”, Jul 2009. DOI: 10.1111/j.1751-1097.2009.00595.x. PMID: 19656325. 

dx.doi.org

  • Laurent Gouya i inni, Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria, „American Journal of Human Genetics”, 78 (1), 2006, s. 2-14, DOI10.1086/498620, PMID16385445.
  • S. Alexander Holme i inni, Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance, „The Journal of investigative dermatology”, 129 (3), 2009, s. 599-605, DOI10.1038/jid.2008.272, ISSN 1523-1747, PMID18787536.
  • Sharon D. Whatley i inni, C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload, „American Journal of Human Genetics”, 83 (3), 2008, s. 408-14, DOI10.1016/j.ajhg.2008.08.003, PMID18760763.
  • S Thunell, P Harper, A Brun, Porphyrins, porphyrin metabolism and porphyrias. IV. Pathophysiology of erythyropoietic protoporphyria--diagnosis, care and monitoring of the patient, „Scand J Clin Lab Invest”, 60 (7), 2000, s. 581-604, DOI10.1080/003655100448347, PMID11202051. Cytat za: Lecha, 2009
  • Brendan M. McGuire i inni, Liver transplantation for erythropoietic protoporphyria liver disease, „Liver Transpl”, 11 (12), 2005, s. 1590-6, DOI10.1002/lt.20620, PMID16315313.
  • Elizabeth B. Rand i inni, Sequential liver and bone marrow transplantation for treatment of erythropoietic protoporphyria, „Pediatrics”, 118 (6), 2006, e1896-9, DOI10.1542/peds.2006-0833, PMID17074841.
  • Ingrid Winship i inni, Antioxidant effect of warfarin therapy: a possible symptomatic treatment for erythropoietic protoporphyria, „Archives of Dermatology”, 145 (8), 2009, s. 960-1, DOI10.1001/archdermatol.2009.165, PMID19687444.

nih.gov

ncbi.nlm.nih.gov

  • IA Magnus, A Jarrett, TA Prankerd, C Rimington. Erythropoietic protoporphyria. A new porphyria syndrome with solar urticaria due to protoporphyrinaemia. „Lancet”. 2 (7200), s. 448-51, Aug 1961. PMID: 13765301. 
  • M Lecha, H Puy, JC Deybach. Erythropoietic protoporphyria. „Orphanet J Rare Dis”. 4, s. 19, 2009. DOI: 10.1186/1750-1172-4-19. PMID: 19744342. 
  • HL Bonkowsky, JR Bloomer, PS Ebert, MJ Mahoney. Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts. „J Clin Invest”. 56 (5), s. 1139-48, Nov 1975. DOI: 10.1172/JCI108189. PMID: 1184741. 
  • JR Bloomer. Characterization of deficient heme synthase activity in protoporphyria with cultured skin fibroblasts. „J Clin Invest”. 65 (2), s. 321-8, Feb 1980. DOI: 10.1172/JCI109675. PMID: 7356682. 
  • LN Went, EC Klasen. Genetic aspects of erythropoietic protoporphyria. „Ann Hum Genet”. 48 (Pt 2), s. 105-17, May 1984. PMID: 6742776. 
  • Laurent Gouya i inni, Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria, „American Journal of Human Genetics”, 78 (1), 2006, s. 2-14, DOI10.1086/498620, PMID16385445.
  • S. Alexander Holme i inni, Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance, „The Journal of investigative dermatology”, 129 (3), 2009, s. 599-605, DOI10.1038/jid.2008.272, ISSN 1523-1747, PMID18787536.
  • Sharon D. Whatley i inni, C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload, „American Journal of Human Genetics”, 83 (3), 2008, s. 408-14, DOI10.1016/j.ajhg.2008.08.003, PMID18760763.
  • HW Lim. Pathophysiology of cutaneous lesions in porphyrias. „Semin Hematol”. 26 (2), s. 114-9, Apr 1989. PMID: 2658087.  Cytat za: Lecha, 2009
  • S Thunell, P Harper, A Brun, Porphyrins, porphyrin metabolism and porphyrias. IV. Pathophysiology of erythyropoietic protoporphyria--diagnosis, care and monitoring of the patient, „Scand J Clin Lab Invest”, 60 (7), 2000, s. 581-604, DOI10.1080/003655100448347, PMID11202051. Cytat za: Lecha, 2009
  • GH Elder, SG Smith, SJ Smyth. Laboratory investigation of the porphyrias.. „Ann Clin Biochem”. 27 ( Pt 5), s. 395-412, Sep 1990. PMID: 2281921.  Cytat za: Lacha, 2009
  • SA Holme, AV Anstey, AY Finlay, GH Elder i inni. Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life. „Br J Dermatol”. 155 (3), s. 574-81, Sep 2006. DOI: 10.1111/j.1365-2133.2006.07472.x. PMID: 16911284. 
  • CA Henderson, S Jones, G Elder, A Ilchyshyn. Erythropoietic protoporphyria presenting in an adult. „J R Soc Med”. 88 (8), s. 476P-477P, Aug 1995. PMID: 7562835. 
  • JD Fallon, JC Kvedar, RJ Margolis, MA Pathak. Erythropoietic protoporphyria presenting in adulthood. „Arch Dermatol”. 125 (9), s. 1286-7, Sep 1989. PMID: 2774610. 
  • GM Murphy, JL Hawk, IA Magnus. Late-onset erythropoietic protoporphyria with unusual cutaneous features. „Arch Dermatol”. 121 (10), s. 1309-12, Oct 1985. PMID: 4037826. 
  • RA Marsden, RP Dawber. Erythropoietic protoporphyria with onycholysis. „Proc R Soc Med”. 70 (8), s. 572-4, Aug 1977. PMID: 918073. 
  • R Baran, L Juhlin. Photoonycholysis. „Photodermatol Photoimmunol Photomed”. 18 (4), s. 202-7, Aug 2002. PMID: 12390677. 
  • SA Muley, HA Midani, JM Rank, R Carithers i inni. Neuropathy in erythropoietic protoporphyrias. „Neurology”. 51 (1), s. 262-5, Jul 1998. PMID: 9674816. 
  • H Tsuboi, K Yonemoto, K Katsuoka. Erythropoietic protoporphyria with eye complications. „J Dermatol”. 34 (11), s. 790-4, Nov 2007. DOI: 10.1111/j.1346-8138.2007.00386.x. PMID: 17973823. 
  • SA Holme, M Worwood, AV Anstey, GH Elder i inni. Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria. „Blood”. 110 (12), s. 4108-10, Dec 2007. DOI: 10.1182/blood-2007-04-088120. PMID: 17804693. 
  • EI Minder, L Gouya, X Schneider-Yin, JC Deybach. A genotype-phenotype correlation between null-allele mutations in the ferrochelatase gene and liver complication in patients with erythropoietic protoporphyria. „Cell Mol Biol (Noisy-le-grand)”. 48 (1), s. 91-6, Feb 2002. PMID: 11929053. 
  • Brendan M. McGuire i inni, Liver transplantation for erythropoietic protoporphyria liver disease, „Liver Transpl”, 11 (12), 2005, s. 1590-6, DOI10.1002/lt.20620, PMID16315313.
  • Elizabeth B. Rand i inni, Sequential liver and bone marrow transplantation for treatment of erythropoietic protoporphyria, „Pediatrics”, 118 (6), 2006, e1896-9, DOI10.1542/peds.2006-0833, PMID17074841.
  • EI Minder, X Schneider-Yin, J Steurer, LM Bachmann. A systematic review of treatment options for dermal photosensitivity in erythropoietic protoporphyria. „Cell Mol Biol”. 55 (1), s. 84-97, 2009. PMID: 19268006. 
  • J Harms, S Lautenschlager, CE Minder, EI Minder. An alpha-melanocyte-stimulating hormone analogue in erythropoietic protoporphyria. „N Engl J Med”. 360 (3), s. 306-7, Jan 2009. DOI: 10.1056/NEJMc0805682. PMID: 19144952. 
  • JH Harms, S Lautenschlager, CE Minder, EI Minder. Mitigating Photosensitivity of Erythropoietic Protoporphyria Patients by an Agonistic Analog of alpha-Melanocyte Stimulating Hormone. „Photochem Photobiol”, Jul 2009. DOI: 10.1111/j.1751-1097.2009.00595.x. PMID: 19656325. 
  • Ingrid Winship i inni, Antioxidant effect of warfarin therapy: a possible symptomatic treatment for erythropoietic protoporphyria, „Archives of Dermatology”, 145 (8), 2009, s. 960-1, DOI10.1001/archdermatol.2009.165, PMID19687444.
  • DJ Todd. Erythropoietic protoporphyria. „Br J Dermatol”. 131 (6), s. 751-66, Dec 1994. PMID: 7857832. 
  • MB Poh-Fitzpatrick. Human protoporphyria: reduced cutaneous photosensitivity and lower erythrocyte porphyrin levels during pregnancy. „J Am Acad Dermatol”. 36 (1), s. 40-3, Jan 1997. PMID: 8996259. 

omim.org

web.archive.org

worldcat.org

  • S. Alexander Holme i inni, Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance, „The Journal of investigative dermatology”, 129 (3), 2009, s. 599-605, DOI10.1038/jid.2008.272, ISSN 1523-1747, PMID18787536.