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Volumn 129, Issue 3, 2009, Pages 599-605

Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance

Author keywords

[No Author keywords available]

Indexed keywords

ERYTHROCYTE PROTOPORPHYRIN; FERROCHELATASE;

EID: 59949095105     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2008.272     Document Type: Article
Times cited : (52)

References (25)
  • 1
    • 0023902682 scopus 로고
    • The liver in protoporphyria
    • Bloomer JR (1988) The liver in protoporphyria. Hepatol 8:402-7
    • (1988) Hepatol , vol.8 , pp. 402-407
    • Bloomer, J.R.1
  • 2
    • 0032725555 scopus 로고    scopus 로고
    • Human ferrochelatase: Crystallization, characterization of the [2Fe-2S] cluster and determination that the enzyme is a homodimer
    • Burden AE, Wu C, Dailey TA, Busch JL, Dhawan IK, Rose JP et al. (1999) Human ferrochelatase: crystallization, characterization of the [2Fe-2S] cluster and determination that the enzyme is a homodimer. Biochem Biophys Acta 1435:191-7
    • (1999) Biochem Biophys Acta , vol.1435 , pp. 191-197
    • Burden, A.E.1    Wu, C.2    Dailey, T.A.3    Busch, J.L.4    Dhawan, I.K.5    Rose, J.P.6
  • 3
    • 59949106072 scopus 로고    scopus 로고
    • Cox TM (2003) Protoporphyria. In: The Porphyrin Handbook, 14, Medical Aspects of Porphyries (Kadish KM, Smith KM, Guilard R, eds), Academic Press: Amsterdam, 121-50
    • Cox TM (2003) Protoporphyria. In: The Porphyrin Handbook, vol. 14, Medical Aspects of Porphyries (Kadish KM, Smith KM, Guilard R, eds), Academic Press: Amsterdam, 121-50
  • 4
    • 0035406122 scopus 로고    scopus 로고
    • Front line tests for the investigation of suspected porphyria
    • Deacon AC, Elder GH (2001) Front line tests for the investigation of suspected porphyria. J Clin Pathol 54:500-7
    • (2001) J Clin Pathol , vol.54 , pp. 500-507
    • Deacon, A.C.1    Elder, G.H.2
  • 6
    • 0030904874 scopus 로고    scopus 로고
    • Hepatic porphyrias in children
    • Elder GH (1997) Hepatic porphyrias in children. J Inherit Metab Dis 20:237-46
    • (1997) J Inherit Metab Dis , vol.20 , pp. 237-246
    • Elder, G.H.1
  • 7
    • 0028045004 scopus 로고
    • The dominant form of hereditary palmoplantar keratoderma in the northernmost county of Sweden (Norrbotten)
    • Gamborg Nielsen P, Hofer PA, Lagerholm B (1994) The dominant form of hereditary palmoplantar keratoderma in the northernmost county of Sweden (Norrbotten). Dermatology 188:188-93
    • (1994) Dermatology , vol.188 , pp. 188-193
    • Gamborg Nielsen, P.1    Hofer, P.A.2    Lagerholm, B.3
  • 8
    • 29244454253 scopus 로고    scopus 로고
    • Contribution of a single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria
    • Gouya L, Martin-Schmitt C, Robreau A-M, Austerlitz F, Da Silva V, Brun P et al. (2006) Contribution of a single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Genet 78:2-14
    • (2006) Am J Hum Genet , vol.78 , pp. 2-14
    • Gouya, L.1    Martin-Schmitt, C.2    Robreau, A.-M.3    Austerlitz, F.4    Da Silva, V.5    Brun, P.6
  • 9
    • 0036337671 scopus 로고    scopus 로고
    • The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH
    • Gouya L, Puy H, Robreau AM, Bourgeois M, Lamoril J, Da Silva V et al. (2002) The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. Nat Genet 30:27-8
    • (2002) Nat Genet , vol.30 , pp. 27-28
    • Gouya, L.1    Puy, H.2    Robreau, A.M.3    Bourgeois, M.4    Lamoril, J.5    Da Silva, V.6
  • 10
    • 6844254571 scopus 로고    scopus 로고
    • Hereditary palmoplantar keratodermas in South India
    • Gulati S, Thappa DM, Garg BR (1997) Hereditary palmoplantar keratodermas in South India. J Dermatol 24:765-8
    • (1997) J Dermatol , vol.24 , pp. 765-768
    • Gulati, S.1    Thappa, D.M.2    Garg, B.R.3
  • 11
    • 34548837512 scopus 로고    scopus 로고
    • Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease
    • Herrero C, To-Figueras J, Badenas C, Méndez M, Serrano P, Enríquez-Salamanca R et al. (2007) Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease. Arch Dermatol 143:1125-1129
    • (2007) Arch Dermatol , vol.143 , pp. 1125-1129
    • Herrero, C.1    To-Figueras, J.2    Badenas, C.3    Méndez, M.4    Serrano, P.5    Enríquez-Salamanca, R.6
  • 12
    • 33747033382 scopus 로고    scopus 로고
    • Erythropoietic protoporphyria in the United Kingdom: Clinical features and effect on quality of life
    • Holme SA, Anstey AV, Finlay AY, Elder GH, Badminton MN (2006) Erythropoietic protoporphyria in the United Kingdom: clinical features and effect on quality of life. Br J Dermatol 155:574-81
    • (2006) Br J Dermatol , vol.155 , pp. 574-581
    • Holme, S.A.1    Anstey, A.V.2    Finlay, A.Y.3    Elder, G.H.4    Badminton, M.N.5
  • 13
  • 16
    • 0034351813 scopus 로고    scopus 로고
    • Erythropoietic protoporphyria. An overview with emphasis on the liver
    • Meerman L (2000) Erythropoietic protoporphyria. An overview with emphasis on the liver. Scand J Gastroenterol 35(Suppl 232):79-85
    • (2000) Scand J Gastroenterol , vol.35 , Issue.SUPPL. 232 , pp. 79-85
    • Meerman, L.1
  • 18
    • 0036622095 scopus 로고    scopus 로고
    • Erythropoietic protoporphyria: Altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations
    • Poh-Fitzpatrick MB, Wang X, Anderson KE, Bloomer JR, Bolwell B, Lichtin AE (2002) Erythropoietic protoporphyria: altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations. J Am Acad Dermatol 46:861-6
    • (2002) J Am Acad Dermatol , vol.46 , pp. 861-866
    • Poh-Fitzpatrick, M.B.1    Wang, X.2    Anderson, K.E.3    Bloomer, J.R.4    Bolwell, B.5    Lichtin, A.E.6
  • 19
    • 0028230273 scopus 로고
    • Molecular characterization of a ferrochelatase gene defect causing anomalous RNA splicing in erythropoietic protoporphyria
    • Sarkany RP, Whitcombe DM, Cox TM (1994b) Molecular characterization of a ferrochelatase gene defect causing anomalous RNA splicing in erythropoietic protoporphyria. J Invest Dermatol 102:481-4
    • (1994) J Invest Dermatol , vol.102 , pp. 481-484
    • Sarkany, R.P.1    Whitcombe, D.M.2    Cox, T.M.3
  • 20
    • 0028290552 scopus 로고
    • Recessive inheritance of erythropoietic protoporphyria with liver failure
    • Sarkany RPE, Alexander GJMA, Cox TM (1994a) Recessive inheritance of erythropoietic protoporphyria with liver failure. Lancet 343:1394-6
    • (1994) Lancet , vol.343 , pp. 1394-1396
    • Sarkany, R.P.E.1    Alexander, G.J.M.A.2    Cox, T.M.3
  • 21
    • 0016350370 scopus 로고
    • Erythropoietic protoporphyria: A clinical study based on 29 cases in 14 families
    • Schmidt H, Snitker G, Thomsen K, Lintrup J (1974) Erythropoietic protoporphyria: a clinical study based on 29 cases in 14 families. Arch Dermatol 110:58-64
    • (1974) Arch Dermatol , vol.110 , pp. 58-64
    • Schmidt, H.1    Snitker, G.2    Thomsen, K.3    Lintrup, J.4
  • 22
    • 0028149374 scopus 로고
    • Erythropoietic protoporphyria
    • Todd DJ (1994) Erythropoietic protoporphyria. Br J Dermatol 131:751-66
    • (1994) Br J Dermatol , vol.131 , pp. 751-766
    • Todd, D.J.1
  • 23
    • 16544379257 scopus 로고    scopus 로고
    • Autosomal recessive erythropoietic protoporphyria in the United Kingdom: Prevalence and relationship to liver disease
    • Whatley SD, Mason NG, Khan M, Zamiri M, Badminton MN, Missaoui WN et al. (2004) Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease. J Med Genet 41:e105
    • (2004) J Med Genet , vol.41
    • Whatley, S.D.1    Mason, N.G.2    Khan, M.3    Zamiri, M.4    Badminton, M.N.5    Missaoui, W.N.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.