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Volumn 16, Issue 3, 2007, Pages 99-104

Erythropoietic protoporphyria patients in Slovenia

Author keywords

Erythropoietic protoporphyria; Patients; Prevalence; Slovenia

Indexed keywords

PROTOPORPHYRIN;

EID: 35448954423     PISSN: 13184458     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (11)

References (22)
  • 1
    • 0000435869 scopus 로고    scopus 로고
    • Metabolic and Nutritional Disorders
    • Champion RH, et al, editors, 6th ed. Oxford: Blackwell
    • Black MM, Gawkrodger DJ, Seymour CA, Weisman K. Metabolic and Nutritional Disorders. In: Champion RH, et al., editors. Textbook of dermatology. 6th ed. Oxford: Blackwell 1998; p. 2597.
    • (1998) Textbook of dermatology , pp. 2597
    • Black, M.M.1    Gawkrodger, D.J.2    Seymour, C.A.3    Weisman, K.4
  • 2
    • 0001774820 scopus 로고
    • Lichtüberampfindlichkeit und Porphyrinämie.
    • Kossenow W, Treibs A. Lichtüberampfindlichkeit und Porphyrinämie. Z Kinderheilk 1953;73:82-92.
    • (1953) Z Kinderheilk , vol.73 , pp. 82-92
    • Kossenow, W.1    Treibs, A.2
  • 3
    • 1842642599 scopus 로고
    • Untersuchungen zur familiären protoporphyrinemischen Lichturticaria
    • Langhof H, Müller H, Rietschel L. Untersuchungen zur familiären protoporphyrinemischen Lichturticaria. Arch Klin Exp Derm 1961;212:306-18.
    • (1961) Arch Klin Exp Derm , vol.212 , pp. 306-318
    • Langhof, H.1    Müller, H.2    Rietschel, L.3
  • 4
    • 35448991374 scopus 로고    scopus 로고
    • Magnus IA, Jarret A, Pankard et al. A new porphyria syndrome with solar urticaria due to porphyrinemia. Lancet 196l;II:448-51.
    • Magnus IA, Jarret A, Pankard et al. A new porphyria syndrome with solar urticaria due to porphyrinemia. Lancet 196l;II:448-51.
  • 5
    • 0033560096 scopus 로고    scopus 로고
    • Gouya L, Puy H, Lamoril et al. Inheritance in erythropoietic protoporphyria: a common wild-type ferochelatase allele variant with low expression accounts for clinical manifestations. Blood 1999;93:2105-10.
    • Gouya L, Puy H, Lamoril et al. Inheritance in erythropoietic protoporphyria: a common wild-type ferochelatase allele variant with low expression accounts for clinical manifestations. Blood 1999;93:2105-10.
  • 6
    • 0026338563 scopus 로고
    • Human erythropoietic protoporphyria: Two point mutation in the ferrochelatase gene
    • Lamoril J, Boulechfar S, de Verneil H et al. Human erythropoietic protoporphyria: Two point mutation in the ferrochelatase gene. Biochem Biophys Res Commun 1991;2:594-9.
    • (1991) Biochem Biophys Res Commun , vol.2 , pp. 594-599
    • Lamoril, J.1    Boulechfar, S.2    de Verneil, H.3
  • 7
    • 16544379257 scopus 로고    scopus 로고
    • Autosomal recessive EPP in United Kingdom: Prevalence and relationship to liver disease. JMG Online
    • Whatley SD, Mason NG, Khan M et al. Autosomal recessive EPP in United Kingdom: prevalence and relationship to liver disease. JMG Online. J Med Gen 2004;41:e105.
    • (2004) J Med Gen , vol.41
    • Whatley, S.D.1    Mason, N.G.2    Khan, M.3
  • 8
    • 0036337671 scopus 로고    scopus 로고
    • Gouya L, Puy H, Robreaui et al. The penetrance of dominant EPP is modulated by expression of wildtype FeCH Nat Genet 2002;30(1):27-8
    • Gouya L, Puy H, Robreaui et al. The penetrance of dominant EPP is modulated by expression of wildtype FeCH Nat Genet 2002;30(1):27-8
  • 9
    • 35448972997 scopus 로고
    • A study of known cases in Sweden
    • Haeger Aronsen B, Krook G. EPP. A study of known cases in Sweden. Acta Med Scand 1966;179;Suppl 445.
    • (1966) Acta Med Scand , vol.179 , Issue.SUPPL. 445
    • Haeger Aronsen, B.1    Krook, G.2    EPP3
  • 14
    • 1842793866 scopus 로고
    • EPP. Clinical and laboratory features in 7 new cases
    • Peterka ES, Fusaro RM, Runge WJ et al. EPP. Clinical and laboratory features in 7 new cases. JAMA 1963;193:1036-42.
    • (1963) JAMA , vol.193 , pp. 1036-1042
    • Peterka, E.S.1    Fusaro, R.M.2    Runge, W.J.3
  • 16
    • 0000633027 scopus 로고    scopus 로고
    • Redeker AG, Bronov R, Sterling S. Erythropoietic protoporphyria. S Afr J Lab Clin Med 1963;9:235-8.
    • Redeker AG, Bronov R, Sterling S. Erythropoietic protoporphyria. S Afr J Lab Clin Med 1963;9:235-8.
  • 17
    • 0014938535 scopus 로고
    • EPP. A clinical and genetic study
    • Reed WB, Wuepper KD, Epstein JH et al. EPP. A clinical and genetic study. JAMA 1970;214:1060-6.
    • (1970) JAMA , vol.214 , pp. 1060-1066
    • Reed, W.B.1    Wuepper, K.D.2    Epstein, J.H.3
  • 19
    • 84982495705 scopus 로고
    • Eriropoetska protopororija
    • Kansky A. Eriropoetska protopororija. Zdrav Vestn 1969;38:439-42.
    • (1969) Zdrav Vestn , vol.38 , pp. 439-442
    • Kansky, A.1
  • 20
    • 0015263264 scopus 로고
    • Erythropoietic protoporphyria. A report of five cases
    • Kansky A. Erythropoietic protoporphyria. A report of five cases. Int J Dermatol 1972;11:21-5.
    • (1972) Int J Dermatol , vol.11 , pp. 21-25
    • Kansky, A.1
  • 21
    • 0019825753 scopus 로고
    • Erythropoietic protoporphyria in Slovenia, Epidemiologic study
    • Kansky A, Berčič M. Erythropoietic protoporphyria in Slovenia, Epidemiologic study. Dermatologica 1981;163:232-8.
    • (1981) Dermatologica , vol.163 , pp. 232-238
    • Kansky, A.1    Berčič, M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.