메뉴 건너뛰기




Volumn 375, Issue 9718, 2010, Pages 924-937

Porphyrias

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLSALICYLIC ACID; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CHLORPROMAZINE; CLONAZEPAM; CYCLIZINE; DIAZEPAM; DIHYDROCODEINE; GABAPENTIN; HEME; LACTULOSE; LAXATIVE; LORAZEPAM; MAGNESIUM SULFATE; ONDANSETRON; OPIATE; PARACETAMOL; PROMAZINE; PROTOPORPHYRIN; SENNA EXTRACT;

EID: 77749251871     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(09)61925-5     Document Type: Review
Times cited : (591)

References (140)
  • 1
    • 0000718795 scopus 로고    scopus 로고
    • Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias
    • Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds), McGraw-Hill, New York
    • Anderson K.E., Sassa S.S., Bishop D.F., and Desnick R.J. Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The metabolic basis of inherited disease. 8th edn. (2001), McGraw-Hill, New York
    • (2001) The metabolic basis of inherited disease. 8th edn.
    • Anderson, K.E.1    Sassa, S.S.2    Bishop, D.F.3    Desnick, R.J.4
  • 3
    • 0025276713 scopus 로고
    • Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome
    • Bishop D.F., Henderson A.S., and Astrin K.H. Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome. Genomics 7 (1990) 207-214
    • (1990) Genomics , vol.7 , pp. 207-214
    • Bishop, D.F.1    Henderson, A.S.2    Astrin, K.H.3
  • 4
    • 0037144490 scopus 로고    scopus 로고
    • Drugs mediate the transcriptional activation of the 5-aminolevulinic acid synthase (ALAS1) gene via the chicken xenobiotic-sensing nuclear receptor (CXR)
    • Fraser D.J., Podvinec M., Kaufmann M.R., and Meyer U.A. Drugs mediate the transcriptional activation of the 5-aminolevulinic acid synthase (ALAS1) gene via the chicken xenobiotic-sensing nuclear receptor (CXR). J Biol Chem 277 (2002) 34717-34726
    • (2002) J Biol Chem , vol.277 , pp. 34717-34726
    • Fraser, D.J.1    Podvinec, M.2    Kaufmann, M.R.3    Meyer, U.A.4
  • 5
    • 33847240106 scopus 로고    scopus 로고
    • (Far) Outside the box: genomic approach to acute porphyria
    • Thunell S. (Far) Outside the box: genomic approach to acute porphyria. Physiol Res 55 suppl 2 (2006) 43-66
    • (2006) Physiol Res , vol.55 , Issue.SUPPL. 2 , pp. 43-66
    • Thunell, S.1
  • 6
    • 0031067502 scopus 로고    scopus 로고
    • Translational control of erythroid delta-aminolevulinate synthase in immature human erythroid cells by heme
    • Smith S.J., and Cox T.M. Translational control of erythroid delta-aminolevulinate synthase in immature human erythroid cells by heme. Cell Mol Biol (Noisy-le-grand) 43 (1997) 103-114
    • (1997) Cell Mol Biol (Noisy-le-grand) , vol.43 , pp. 103-114
    • Smith, S.J.1    Cox, T.M.2
  • 7
    • 0036957685 scopus 로고    scopus 로고
    • Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients
    • Schneider-Yin X., Hergersberg M., Goldgar D.E., et al. Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients. Hum Hered 54 (2002) 69-81
    • (2002) Hum Hered , vol.54 , pp. 69-81
    • Schneider-Yin, X.1    Hergersberg, M.2    Goldgar, D.E.3
  • 8
    • 0036821823 scopus 로고    scopus 로고
    • Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene
    • Floderus Y., Shoolingin-Jordan P.M., and Harper P. Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene. Clin Genet 62 (2002) 288-297
    • (2002) Clin Genet , vol.62 , pp. 288-297
    • Floderus, Y.1    Shoolingin-Jordan, P.M.2    Harper, P.3
  • 9
    • 0030140415 scopus 로고    scopus 로고
    • A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria
    • Meissner P.N., Dailey T.A., Hift R.J., et al. A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. Nat Genet 13 (1996) 95-97
    • (1996) Nat Genet , vol.13 , pp. 95-97
    • Meissner, P.N.1    Dailey, T.A.2    Hift, R.J.3
  • 10
    • 70249137583 scopus 로고    scopus 로고
    • Clinical aspects of acute intermittent porphyria in northern Sweden: a population-based study
    • Bylesjo I., Wikberg A., and Andersson C. Clinical aspects of acute intermittent porphyria in northern Sweden: a population-based study. Scand J Clin Lab Invest 69 (2009) 612-618
    • (2009) Scand J Clin Lab Invest , vol.69 , pp. 612-618
    • Bylesjo, I.1    Wikberg, A.2    Andersson, C.3
  • 11
    • 0042343896 scopus 로고    scopus 로고
    • Acute intermittent porphyria in women: clinical expression, use and experience of exogenous sex hormones. A population-based study in northern Sweden
    • Andersson C., Innala E., and Backstrom T. Acute intermittent porphyria in women: clinical expression, use and experience of exogenous sex hormones. A population-based study in northern Sweden. J Intern Med 254 (2003) 176-183
    • (2003) J Intern Med , vol.254 , pp. 176-183
    • Andersson, C.1    Innala, E.2    Backstrom, T.3
  • 12
    • 0027235754 scopus 로고
    • Early administration of heme arginate for acute porphyric attacks
    • Mustajoki P., and Nordmann Y. Early administration of heme arginate for acute porphyric attacks. Arch Intern Med 153 (1993) 2004-2008
    • (1993) Arch Intern Med , vol.153 , pp. 2004-2008
    • Mustajoki, P.1    Nordmann, Y.2
  • 13
    • 0030987819 scopus 로고    scopus 로고
    • The little imitator-porphyria: a neuropsychiatric disorder
    • Crimlisk H.L. The little imitator-porphyria: a neuropsychiatric disorder. J Neurol Neurosurg Psychiatry 62 (1997) 319-328
    • (1997) J Neurol Neurosurg Psychiatry , vol.62 , pp. 319-328
    • Crimlisk, H.L.1
  • 14
    • 12344251028 scopus 로고    scopus 로고
    • An analysis of 112 acute porphyric attacks in Cape Town, South Africa: evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity
    • Hift R.J., and Meissner P.N. An analysis of 112 acute porphyric attacks in Cape Town, South Africa: evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity. Medicine (Baltimore) 84 (2005) 48-60
    • (2005) Medicine (Baltimore) , vol.84 , pp. 48-60
    • Hift, R.J.1    Meissner, P.N.2
  • 15
    • 0036840651 scopus 로고    scopus 로고
    • Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families
    • Kauppinen R., and von und zu Fraunberg M. Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families. Clin Chem 48 (2002) 1891-1900
    • (2002) Clin Chem , vol.48 , pp. 1891-1900
    • Kauppinen, R.1    von und zu Fraunberg, M.2
  • 16
    • 0021358220 scopus 로고
    • Urine and faecal porphyrin profiles by reversed-phase high-performance liquid chromatography in the porphyrias
    • Lim C.K., and Peters T.J. Urine and faecal porphyrin profiles by reversed-phase high-performance liquid chromatography in the porphyrias. Clin Chim Acta 139 (1984) 55-63
    • (1984) Clin Chim Acta , vol.139 , pp. 55-63
    • Lim, C.K.1    Peters, T.J.2
  • 17
    • 33645456314 scopus 로고    scopus 로고
    • Estimation and application of biological variation of urinary delta-aminolevulinic acid and porphobilinogen in healthy individuals and in patients with acute intermittent porphyria
    • Aarsand A.K., Petersen P.H., and Sandberg S. Estimation and application of biological variation of urinary delta-aminolevulinic acid and porphobilinogen in healthy individuals and in patients with acute intermittent porphyria. Clin Chem 52 (2006) 650-656
    • (2006) Clin Chem , vol.52 , pp. 650-656
    • Aarsand, A.K.1    Petersen, P.H.2    Sandberg, S.3
  • 18
    • 2142765290 scopus 로고    scopus 로고
    • Plasma fluorescence scanning and fecal porphyrin analysis for the diagnosis of variegate porphyria: precise determination of sensitivity and specificity with detection of protoporphyrinogen oxidase mutations as a reference standard
    • Hift R.J., Davidson B.P., van der Hooft C., Meissner D.M., and Meissner P.N. Plasma fluorescence scanning and fecal porphyrin analysis for the diagnosis of variegate porphyria: precise determination of sensitivity and specificity with detection of protoporphyrinogen oxidase mutations as a reference standard. Clin Chem 50 (2004) 915-923
    • (2004) Clin Chem , vol.50 , pp. 915-923
    • Hift, R.J.1    Davidson, B.P.2    van der Hooft, C.3    Meissner, D.M.4    Meissner, P.N.5
  • 19
    • 0029132314 scopus 로고
    • Variegate porphyria: diagnostic value of fluorometric scanning of plasma porphyrins
    • Da Silva V., Simonin S., Deybach J.C., Puy H., and Nordmann Y. Variegate porphyria: diagnostic value of fluorometric scanning of plasma porphyrins. Clin Chim Acta 238 (1995) 163-168
    • (1995) Clin Chim Acta , vol.238 , pp. 163-168
    • Da Silva, V.1    Simonin, S.2    Deybach, J.C.3    Puy, H.4    Nordmann, Y.5
  • 20
    • 0033741406 scopus 로고    scopus 로고
    • Hereditary coproporphyria in Germany: clinical-biochemical studies in 53 patients
    • Kuhnel A., Gross U., and Doss M.O. Hereditary coproporphyria in Germany: clinical-biochemical studies in 53 patients. Clin Biochem 33 (2000) 465-473
    • (2000) Clin Biochem , vol.33 , pp. 465-473
    • Kuhnel, A.1    Gross, U.2    Doss, M.O.3
  • 21
  • 22
    • 25144479909 scopus 로고    scopus 로고
    • Hereditary coproporphyria: comparison of molecular and biochemical investigations in a large family
    • Allen K.R., Whatley S.D., Degg T.J., and Barth J.H. Hereditary coproporphyria: comparison of molecular and biochemical investigations in a large family. J Inherit Metab Dis 28 (2005) 779-785
    • (2005) J Inherit Metab Dis , vol.28 , pp. 779-785
    • Allen, K.R.1    Whatley, S.D.2    Degg, T.J.3    Barth, J.H.4
  • 23
    • 0030959246 scopus 로고    scopus 로고
    • Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria
    • Puy H., Deybach J.C., Lamoril J., et al. Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria. Am J Hum Genet 60 (1997) 1373-1383
    • (1997) Am J Hum Genet , vol.60 , pp. 1373-1383
    • Puy, H.1    Deybach, J.C.2    Lamoril, J.3
  • 24
    • 0032899348 scopus 로고    scopus 로고
    • Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update
    • Rosipal R., Lamoril J., Puy H., et al. Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update. Hum Mutat 13 (1999) 44-53
    • (1999) Hum Mutat , vol.13 , pp. 44-53
    • Rosipal, R.1    Lamoril, J.2    Puy, H.3
  • 25
    • 0033361412 scopus 로고    scopus 로고
    • Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation
    • Whatley S.D., Puy H., Morgan R.R., et al. Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation. Am J Hum Genet 65 (1999) 984-994
    • (1999) Am J Hum Genet , vol.65 , pp. 984-994
    • Whatley, S.D.1    Puy, H.2    Morgan, R.R.3
  • 26
    • 0035016319 scopus 로고    scopus 로고
    • Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria
    • Lamoril J., Puy H., Whatley S.D., et al. Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria. Am J Hum Genet 68 (2001) 1130-1138
    • (2001) Am J Hum Genet , vol.68 , pp. 1130-1138
    • Lamoril, J.1    Puy, H.2    Whatley, S.D.3
  • 27
    • 0024424094 scopus 로고
    • Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase
    • Grandchamp B., Picat C., Kauppinen R., et al. Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase. Eur J Clin Invest 19 (1989) 415-418
    • (1989) Eur J Clin Invest , vol.19 , pp. 415-418
    • Grandchamp, B.1    Picat, C.2    Kauppinen, R.3
  • 28
    • 67650081282 scopus 로고    scopus 로고
    • Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene
    • Whatley S.D., Mason N.G., Woolf J.R., Newcombe R.G., Elder G.H., and Badminton M.N. Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene. Clin Chem 55 (2009) 1406-1414
    • (2009) Clin Chem , vol.55 , pp. 1406-1414
    • Whatley, S.D.1    Mason, N.G.2    Woolf, J.R.3    Newcombe, R.G.4    Elder, G.H.5    Badminton, M.N.6
  • 29
    • 0031890977 scopus 로고    scopus 로고
    • Acute porphyrias: pathogenesis of neurological manifestations
    • Meyer U.A., Schuurmans M.M., and Lindberg R.L. Acute porphyrias: pathogenesis of neurological manifestations. Semin Liver Dis 18 (1998) 43-52
    • (1998) Semin Liver Dis , vol.18 , pp. 43-52
    • Meyer, U.A.1    Schuurmans, M.M.2    Lindberg, R.L.3
  • 31
    • 1542271496 scopus 로고    scopus 로고
    • Liver transplantation as a cure for acute intermittent porphyria
    • Soonawalla Z.F., Orug T., Badminton M.N., et al. Liver transplantation as a cure for acute intermittent porphyria. Lancet 363 (2004) 705-706
    • (2004) Lancet , vol.363 , pp. 705-706
    • Soonawalla, Z.F.1    Orug, T.2    Badminton, M.N.3
  • 32
    • 2942672077 scopus 로고    scopus 로고
    • Identification of the xenosensors regulating human 5-aminolevulinate synthase
    • Podvinec M., Handschin C., Looser R., and Meyer U.A. Identification of the xenosensors regulating human 5-aminolevulinate synthase. Proc Natl Acad Sci USA 101 (2004) 9127-9132
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 9127-9132
    • Podvinec, M.1    Handschin, C.2    Looser, R.3    Meyer, U.A.4
  • 33
    • 0025971821 scopus 로고
    • Smoking and recurrent attacks of acute intermittent porphyria
    • Lip G.Y., McColl K.E., Goldberg A., and Moore M.R. Smoking and recurrent attacks of acute intermittent porphyria. BMJ 302 (1991) 507
    • (1991) BMJ , vol.302 , pp. 507
    • Lip, G.Y.1    McColl, K.E.2    Goldberg, A.3    Moore, M.R.4
  • 34
    • 23944476164 scopus 로고    scopus 로고
    • Nutritional regulation of hepatic heme biosynthesis and porphyria through PGC-1alpha
    • Handschin C., Lin J., Rhee J., et al. Nutritional regulation of hepatic heme biosynthesis and porphyria through PGC-1alpha. Cell 122 (2005) 505-515
    • (2005) Cell , vol.122 , pp. 505-515
    • Handschin, C.1    Lin, J.2    Rhee, J.3
  • 35
    • 64049107669 scopus 로고    scopus 로고
    • Peroxisome proliferator-activated receptor alpha controls hepatic heme biosynthesis through ALAS1
    • Degenhardt T., Vaisanen S., Rakhshandehroo M., Kersten S., and Carlberg C. Peroxisome proliferator-activated receptor alpha controls hepatic heme biosynthesis through ALAS1. J Mol Biol 388 (2009) 225-238
    • (2009) J Mol Biol , vol.388 , pp. 225-238
    • Degenhardt, T.1    Vaisanen, S.2    Rakhshandehroo, M.3    Kersten, S.4    Carlberg, C.5
  • 36
    • 68949090452 scopus 로고    scopus 로고
    • Herrero C. Role of two nutritional hepatic markers (insulin-like growth factor 1 and transthyretin) in the clinical assessment and follow-up of AIP patients
    • Delaby C., To-Figueras J., Deybach J.C., Casamitjana R., and Puy H. Herrero C. Role of two nutritional hepatic markers (insulin-like growth factor 1 and transthyretin) in the clinical assessment and follow-up of AIP patients. J Intern Med 266 (2009) 277-285
    • (2009) J Intern Med , vol.266 , pp. 277-285
    • Delaby, C.1    To-Figueras, J.2    Deybach, J.C.3    Casamitjana, R.4    Puy, H.5
  • 37
    • 0026595202 scopus 로고
    • Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases
    • Kauppinen R., and Mustajoki P. Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases. Medicine (Baltimore) 71 (1992) 1-13
    • (1992) Medicine (Baltimore) , vol.71 , pp. 1-13
    • Kauppinen, R.1    Mustajoki, P.2
  • 38
    • 0025748654 scopus 로고
    • Intravenous heme-albumin in acute intermittent porphyria: evidence for repletion of hepatic hemoproteins and regulatory heme pools
    • Bonkovsky H.L., Healey J.F., Lourie A.N., and Gerron G.G. Intravenous heme-albumin in acute intermittent porphyria: evidence for repletion of hepatic hemoproteins and regulatory heme pools. Am J Gastroenterol 86 (1991) 1050-1056
    • (1991) Am J Gastroenterol , vol.86 , pp. 1050-1056
    • Bonkovsky, H.L.1    Healey, J.F.2    Lourie, A.N.3    Gerron, G.G.4
  • 39
    • 14844362079 scopus 로고    scopus 로고
    • Recommendations for the diagnosis and treatment of the acute porphyrias
    • Anderson K.E., Bloomer J.R., Bonkovsky H.L., et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med 142 (2005) 439-450
    • (2005) Ann Intern Med , vol.142 , pp. 439-450
    • Anderson, K.E.1    Bloomer, J.R.2    Bonkovsky, H.L.3
  • 40
    • 0024379435 scopus 로고
    • Heme in the treatment of porphyrias and hematological disorders
    • Mustajoki P., Tenhunen R., Pierach C., and Volin L. Heme in the treatment of porphyrias and hematological disorders. Semin Hematol 26 (1989) 1-9
    • (1989) Semin Hematol , vol.26 , pp. 1-9
    • Mustajoki, P.1    Tenhunen, R.2    Pierach, C.3    Volin, L.4
  • 41
    • 58149359118 scopus 로고    scopus 로고
    • Physicochemical properties, pharmacokinetics, and pharmacodynamics of intravenous hematin: a literature review
    • Siegert S.W., and Holt R.J. Physicochemical properties, pharmacokinetics, and pharmacodynamics of intravenous hematin: a literature review. Adv Ther 25 (2008) 842-857
    • (2008) Adv Ther , vol.25 , pp. 842-857
    • Siegert, S.W.1    Holt, R.J.2
  • 43
    • 33745020102 scopus 로고    scopus 로고
    • Treatment of an acute attack of porphyria during pregnancy
    • Badminton M.N., and Deybach J.C. Treatment of an acute attack of porphyria during pregnancy. Eur J Neurol 13 (2006) 668-669
    • (2006) Eur J Neurol , vol.13 , pp. 668-669
    • Badminton, M.N.1    Deybach, J.C.2
  • 44
    • 33644865449 scopus 로고    scopus 로고
    • Can pregnancy stop cyclical attacks of porphyria?
    • Pischik E., and Kauppinen R. Can pregnancy stop cyclical attacks of porphyria?. Am J Med 119 (2006) 88-90
    • (2006) Am J Med , vol.119 , pp. 88-90
    • Pischik, E.1    Kauppinen, R.2
  • 46
    • 0343293967 scopus 로고    scopus 로고
    • Alcohol and porphyrin metabolism
    • Doss M.O., Kuhnel A., and Gross U. Alcohol and porphyrin metabolism. Alcohol Alcohol 35 (2000) 109-125
    • (2000) Alcohol Alcohol , vol.35 , pp. 109-125
    • Doss, M.O.1    Kuhnel, A.2    Gross, U.3
  • 47
    • 35248878486 scopus 로고    scopus 로고
    • Guide to drug porphyrogenicity prediction and drug prescription in the acute porphyrias
    • Thunell S., Pomp E., and Brun A. Guide to drug porphyrogenicity prediction and drug prescription in the acute porphyrias. Br J Clin Pharmacol 64 (2007) 668-679
    • (2007) Br J Clin Pharmacol , vol.64 , pp. 668-679
    • Thunell, S.1    Pomp, E.2    Brun, A.3
  • 48
    • 0027956929 scopus 로고
    • Hypertension and renal disease in patients with acute intermittent porphyria
    • Andersson C., and Lithner F. Hypertension and renal disease in patients with acute intermittent porphyria. J Intern Med 236 (1994) 169-175
    • (1994) J Intern Med , vol.236 , pp. 169-175
    • Andersson, C.1    Lithner, F.2
  • 49
    • 0023853558 scopus 로고
    • Acute hepatic porphyria and hepatocellular carcinoma
    • Kauppinen R., and Mustajoki P. Acute hepatic porphyria and hepatocellular carcinoma. Br J Cancer 57 (1988) 117-120
    • (1988) Br J Cancer , vol.57 , pp. 117-120
    • Kauppinen, R.1    Mustajoki, P.2
  • 50
    • 0034098286 scopus 로고    scopus 로고
    • Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors
    • Andant C., Puy H., Bogard C., et al. Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors. J Hepatol 32 (2000) 933-939
    • (2000) J Hepatol , vol.32 , pp. 933-939
    • Andant, C.1    Puy, H.2    Bogard, C.3
  • 51
    • 0032543662 scopus 로고    scopus 로고
    • Acute hepatic porphyrias and primary liver cancer
    • Andant C., Puy H., Faivre J., and Deybach J.C. Acute hepatic porphyrias and primary liver cancer. N Engl J Med 338 (1998) 1853-1854
    • (1998) N Engl J Med , vol.338 , pp. 1853-1854
    • Andant, C.1    Puy, H.2    Faivre, J.3    Deybach, J.C.4
  • 52
    • 0029966898 scopus 로고    scopus 로고
    • The epidemiology of hepatocellular carcinoma inpatients with acute intermittent porphyria
    • Andersson C., Bjersing L., and Lithner F. The epidemiology of hepatocellular carcinoma inpatients with acute intermittent porphyria. J Intern Med 240 (1996) 195-201
    • (1996) J Intern Med , vol.240 , pp. 195-201
    • Andersson, C.1    Bjersing, L.2    Lithner, F.3
  • 53
    • 0021052235 scopus 로고
    • Early-onset chronic renalfailure as a complication of acute intermittent porphyria
    • Laiwah A.A., Mactier R., McColl K.E., Moore M.R., and Goldberg A. Early-onset chronic renalfailure as a complication of acute intermittent porphyria. Q J Med 52 (1983) 92-98
    • (1983) Q J Med , vol.52 , pp. 92-98
    • Laiwah, A.A.1    Mactier, R.2    McColl, K.E.3    Moore, M.R.4    Goldberg, A.5
  • 54
    • 0032935239 scopus 로고    scopus 로고
    • The cutaneous porphyrias: a review. The British Photodermatology Group
    • Murphy G.M. The cutaneous porphyrias: a review. The British Photodermatology Group. Br J Dermatol 140 (1999) 573-581
    • (1999) Br J Dermatol , vol.140 , pp. 573-581
    • Murphy, G.M.1
  • 56
    • 0022525866 scopus 로고
    • Molecular and cellular mechanisms of porphyrin photosensitization
    • Poh-Fitzpatrick M.B. Molecular and cellular mechanisms of porphyrin photosensitization. Photodermatol 3 (1986) 148-157
    • (1986) Photodermatol , vol.3 , pp. 148-157
    • Poh-Fitzpatrick, M.B.1
  • 57
    • 0025913273 scopus 로고
    • Skin morphology in porphyria cutanea tarda does not improve despite clinical remission
    • Timonen K., Niemi K.M., and Mustajoki P. Skin morphology in porphyria cutanea tarda does not improve despite clinical remission. Clin Exp Dermatol 16 (1991) 355-358
    • (1991) Clin Exp Dermatol , vol.16 , pp. 355-358
    • Timonen, K.1    Niemi, K.M.2    Mustajoki, P.3
  • 58
    • 0025253980 scopus 로고
    • Skin changes in variegate porphyria. Clinical, histopathological, and ultrastructural study
    • Timonen K., Niemi K.M., Mustajoki P., and Tenhunen R. Skin changes in variegate porphyria. Clinical, histopathological, and ultrastructural study. Arch Dermatol Res 282 (1990) 108-114
    • (1990) Arch Dermatol Res , vol.282 , pp. 108-114
    • Timonen, K.1    Niemi, K.M.2    Mustajoki, P.3    Tenhunen, R.4
  • 59
    • 0026558997 scopus 로고
    • Histologic and immunofluorescence study of cutaneous porphyrias
    • Maynard B., and Peters M.S. Histologic and immunofluorescence study of cutaneous porphyrias. J Cutan Pathol 19 (1992) 40-47
    • (1992) J Cutan Pathol , vol.19 , pp. 40-47
    • Maynard, B.1    Peters, M.S.2
  • 61
    • 0031892668 scopus 로고    scopus 로고
    • Porphyria cutanea tarda
    • Elder G.H. Porphyria cutanea tarda. Semin Liver Dis 18 (1998) 67-75
    • (1998) Semin Liver Dis , vol.18 , pp. 67-75
    • Elder, G.H.1
  • 62
    • 0015297369 scopus 로고
    • Identification of a group of tetracarboxylate porphyrins, containing one acetate and three propionate-substituents, in faeces from patients with symptomatic cutaneous hepatic porphyria and from rats with porphyria due to hexachlorobenzene
    • Elder G.H. Identification of a group of tetracarboxylate porphyrins, containing one acetate and three propionate-substituents, in faeces from patients with symptomatic cutaneous hepatic porphyria and from rats with porphyria due to hexachlorobenzene. Biochem J 126 (1972) 877-891
    • (1972) Biochem J , vol.126 , pp. 877-891
    • Elder, G.H.1
  • 63
    • 0018124244 scopus 로고
    • Familial and sporadic porphyria cutanea: two different diseases
    • de Verneuil H., Nordmann Y., Phung N., et al. Familial and sporadic porphyria cutanea: two different diseases. Int J Biochem 9 (1978) 927-931
    • (1978) Int J Biochem , vol.9 , pp. 927-931
    • de Verneuil, H.1    Nordmann, Y.2    Phung, N.3
  • 64
    • 0018070910 scopus 로고
    • Decreased activity of hepatic uroporphyrinogen decarboxylase in sporadic porphyria cutanea tarda
    • Elder G.H., Lee G.B., and Tovey J.A. Decreased activity of hepatic uroporphyrinogen decarboxylase in sporadic porphyria cutanea tarda. N Engl J Med 299 (1978) 274-278
    • (1978) N Engl J Med , vol.299 , pp. 274-278
    • Elder, G.H.1    Lee, G.B.2    Tovey, J.A.3
  • 65
    • 64149093515 scopus 로고    scopus 로고
    • Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies
    • Aarsand A.K., Boman H., and Sandberg S. Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies. Clin Chem 55 (2009) 795-803
    • (2009) Clin Chem , vol.55 , pp. 795-803
    • Aarsand, A.K.1    Boman, H.2    Sandberg, S.3
  • 66
    • 65249118701 scopus 로고    scopus 로고
    • Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives
    • Badenas C., To-Figueras J., Phillips J.D., Warby C.A., Munoz C., and Herrero C. Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives. Clin Genet 75 (2009) 346-353
    • (2009) Clin Genet , vol.75 , pp. 346-353
    • Badenas, C.1    To-Figueras, J.2    Phillips, J.D.3    Warby, C.A.4    Munoz, C.5    Herrero, C.6
  • 67
    • 0034161367 scopus 로고    scopus 로고
    • Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda
    • Bulaj Z.J., Phillips J.D., Ajioka R.S., et al. Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda. Blood 95 (2000) 1565-1571
    • (2000) Blood , vol.95 , pp. 1565-1571
    • Bulaj, Z.J.1    Phillips, J.D.2    Ajioka, R.S.3
  • 68
    • 0141674800 scopus 로고    scopus 로고
    • Prevalence of hepatitis C virus infection in porphyria cutanea tarda: systematic review and meta-analysis
    • Gisbert J.P., Garcia-Buey L., Pajares J.M., and Moreno-Otero R. Prevalence of hepatitis C virus infection in porphyria cutanea tarda: systematic review and meta-analysis. J Hepatol 39 (2003) 620-627
    • (2003) J Hepatol , vol.39 , pp. 620-627
    • Gisbert, J.P.1    Garcia-Buey, L.2    Pajares, J.M.3    Moreno-Otero, R.4
  • 69
    • 0026498217 scopus 로고
    • Hepatitis C virus and porphyria cutanea tarda: evidence of a strong association
    • Fargion S., Piperno A., Cappellini M.D., et al. Hepatitis C virus and porphyria cutanea tarda: evidence of a strong association. Hepatology 16 (1992) 1322-1326
    • (1992) Hepatology , vol.16 , pp. 1322-1326
    • Fargion, S.1    Piperno, A.2    Cappellini, M.D.3
  • 70
    • 0036164415 scopus 로고    scopus 로고
    • Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency
    • Egger N.G., Goeger D.E., Payne D.A., Miskovsky E.P., Weinman S.A., and Anderson K.E. Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency. Dig Dis Sci 47 (2002) 419-426
    • (2002) Dig Dis Sci , vol.47 , pp. 419-426
    • Egger, N.G.1    Goeger, D.E.2    Payne, D.A.3    Miskovsky, E.P.4    Weinman, S.A.5    Anderson, K.E.6
  • 71
    • 0031016791 scopus 로고    scopus 로고
    • Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda
    • Roberts A.G., Whatley S.D., Morgan R.R., Worwood M., and Elder G.H. Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet 349 (1997) 321-323
    • (1997) Lancet , vol.349 , pp. 321-323
    • Roberts, A.G.1    Whatley, S.D.2    Morgan, R.R.3    Worwood, M.4    Elder, G.H.5
  • 72
    • 0031022078 scopus 로고    scopus 로고
    • The frequency of hemochromatosis-associated alleles is increased in British patients with sporadic porphyria cutanea tarda
    • Roberts A.G., Whatley S.D., Nicklin S., et al. The frequency of hemochromatosis-associated alleles is increased in British patients with sporadic porphyria cutanea tarda. Hepatology 25 (1997) 159-161
    • (1997) Hepatology , vol.25 , pp. 159-161
    • Roberts, A.G.1    Whatley, S.D.2    Nicklin, S.3
  • 73
    • 36349010904 scopus 로고    scopus 로고
    • Hemochromatosis genotypes and risk of 31 disease endpoints: meta-analyses including 66,000 cases and 226,000 controls
    • Ellervik C., Birgens H., Tybjaerg-Hansen A., and Nordestgaard B.G. Hemochromatosis genotypes and risk of 31 disease endpoints: meta-analyses including 66,000 cases and 226,000 controls. Hepatology 46 (2007) 1071-1080
    • (2007) Hepatology , vol.46 , pp. 1071-1080
    • Ellervik, C.1    Birgens, H.2    Tybjaerg-Hansen, A.3    Nordestgaard, B.G.4
  • 74
    • 0035342354 scopus 로고    scopus 로고
    • Influence of hepatitis C virus (HCV) infection on porphyrin and iron metabolism in porphyria cutanea tarda (PCT) patients
    • Dabrowska E., Jablonska-Kaszewska I., Bielawski K.P., and Falkiewicz B. Influence of hepatitis C virus (HCV) infection on porphyrin and iron metabolism in porphyria cutanea tarda (PCT) patients. Med Sci Monit 7 suppl 1 (2001) 190-196
    • (2001) Med Sci Monit , vol.7 , Issue.SUPPL. 1 , pp. 190-196
    • Dabrowska, E.1    Jablonska-Kaszewska, I.2    Bielawski, K.P.3    Falkiewicz, B.4
  • 75
    • 0141499905 scopus 로고    scopus 로고
    • Precipitating/aggravating factors of porphyria cutanea tarda in Spanish patients
    • Cruz-Rojo J., Fontanellas A., Moran-Jimenez M.J., et al. Precipitating/aggravating factors of porphyria cutanea tarda in Spanish patients. Cell Mol Biol (Noisy-le-grand) 48 (2002) 845-852
    • (2002) Cell Mol Biol (Noisy-le-grand) , vol.48 , pp. 845-852
    • Cruz-Rojo, J.1    Fontanellas, A.2    Moran-Jimenez, M.J.3
  • 76
    • 0036481586 scopus 로고    scopus 로고
    • Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT)
    • Lamoril J., Andant C., Gouya L., et al. Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT). Cell Mol Biol (Noisy-le-grand) 48 (2002) 33-41
    • (2002) Cell Mol Biol (Noisy-le-grand) , vol.48 , pp. 33-41
    • Lamoril, J.1    Andant, C.2    Gouya, L.3
  • 77
    • 58149374693 scopus 로고    scopus 로고
    • Down-regulation of hepcidin in porphyria cutanea tarda
    • Ajioka R.S., Phillips J.D., Weiss R.B., et al. Down-regulation of hepcidin in porphyria cutanea tarda. Blood 112 (2008) 4723-4728
    • (2008) Blood , vol.112 , pp. 4723-4728
    • Ajioka, R.S.1    Phillips, J.D.2    Weiss, R.B.3
  • 79
    • 0026632886 scopus 로고
    • Hepatocellular carcinoma in porphyria cutanea tarda: frequency and factors related to its occurrence
    • Siersema P.D., ten Kate F.J., Mulder P.G., and Wilson J.H. Hepatocellular carcinoma in porphyria cutanea tarda: frequency and factors related to its occurrence. Liver 12 (1992) 56-61
    • (1992) Liver , vol.12 , pp. 56-61
    • Siersema, P.D.1    ten Kate, F.J.2    Mulder, P.G.3    Wilson, J.H.4
  • 80
    • 3142624620 scopus 로고    scopus 로고
    • Hepatocellular carcinoma risk in patients with porphyria cutanea tarda
    • Gisbert J.P., Garcia-Buey L., Alonso A., et al. Hepatocellular carcinoma risk in patients with porphyria cutanea tarda. Eur J Gastroenterol Hepatol 16 (2004) 689-692
    • (2004) Eur J Gastroenterol Hepatol , vol.16 , pp. 689-692
    • Gisbert, J.P.1    Garcia-Buey, L.2    Alonso, A.3
  • 81
    • 0033928306 scopus 로고    scopus 로고
    • Management of porphyria cutanea tarda in the setting of chronic renal failure: a case report and review
    • Shieh S., Cohen J.L., and Lim H.W. Management of porphyria cutanea tarda in the setting of chronic renal failure: a case report and review. J Am Acad Dermatol 42 (2000) 645-652
    • (2000) J Am Acad Dermatol , vol.42 , pp. 645-652
    • Shieh, S.1    Cohen, J.L.2    Lim, H.W.3
  • 83
    • 0022642269 scopus 로고
    • Porphyria, pseudoporphyria, pseudopseudoporphyria...?
    • Poh-Fitzpatrick M.B. Porphyria, pseudoporphyria, pseudopseudoporphyria...?. Arch Dermatol 122 (1986) 403-404
    • (1986) Arch Dermatol , vol.122 , pp. 403-404
    • Poh-Fitzpatrick, M.B.1
  • 84
    • 0035724150 scopus 로고    scopus 로고
    • The management of porphyria cutanea tarda
    • Sarkany R.P. The management of porphyria cutanea tarda. Clin Exp Dermatol 26 (2001) 225-232
    • (2001) Clin Exp Dermatol , vol.26 , pp. 225-232
    • Sarkany, R.P.1
  • 85
    • 0037610225 scopus 로고    scopus 로고
    • Diagnosis and treatment of the hepatic porphyrias
    • Lecha M., Herrero C., and Ozalla D. Diagnosis and treatment of the hepatic porphyrias. Dermatol Ther 16 (2003) 65-72
    • (2003) Dermatol Ther , vol.16 , pp. 65-72
    • Lecha, M.1    Herrero, C.2    Ozalla, D.3
  • 86
    • 0030597040 scopus 로고    scopus 로고
    • Effects of chloroquine in hematoporphyrin-treated animals
    • Egger N.G., Goeger D.E., and Anderson K.E. Effects of chloroquine in hematoporphyrin-treated animals. Chem Biol Interact 102 (1996) 69-78
    • (1996) Chem Biol Interact , vol.102 , pp. 69-78
    • Egger, N.G.1    Goeger, D.E.2    Anderson, K.E.3
  • 87
    • 0028303176 scopus 로고
    • Low-dose oral chloroquine in patients with porphyria cutanea tarda and low-moderate iron overload
    • Valls V., Ena J., and Enriquez-De-Salamanca R. Low-dose oral chloroquine in patients with porphyria cutanea tarda and low-moderate iron overload. J Dermatol Sci 7 (1994) 169-175
    • (1994) J Dermatol Sci , vol.7 , pp. 169-175
    • Valls, V.1    Ena, J.2    Enriquez-De-Salamanca, R.3
  • 88
    • 0017349245 scopus 로고
    • Treatment of porphyria cutanea tarda by phlebotomy
    • Ippen H. Treatment of porphyria cutanea tarda by phlebotomy. Semin Hematol 14 (1977) 253-259
    • (1977) Semin Hematol , vol.14 , pp. 253-259
    • Ippen, H.1
  • 89
    • 0036279280 scopus 로고    scopus 로고
    • Management of acute and cutaneous porphyrias
    • Badminton M.N., and Elder G.H. Management of acute and cutaneous porphyrias. Int J Clin Pract 56 (2002) 272-278
    • (2002) Int J Clin Pract , vol.56 , pp. 272-278
    • Badminton, M.N.1    Elder, G.H.2
  • 90
    • 0025095183 scopus 로고
    • Erythropoietin for the treatment of porphyria cutanea tarda in a patient on long-term hemodialysis
    • Anderson K.E., Goeger D.E., Carson R.W., Lee S.M., and Stead R.B. Erythropoietin for the treatment of porphyria cutanea tarda in a patient on long-term hemodialysis. N Engl J Med 322 (1990) 315-317
    • (1990) N Engl J Med , vol.322 , pp. 315-317
    • Anderson, K.E.1    Goeger, D.E.2    Carson, R.W.3    Lee, S.M.4    Stead, R.B.5
  • 91
    • 0028211948 scopus 로고
    • Successful treatment of haemodialysis-related porphyria cutanea tarda with erythropoietin
    • Peces R., de Salamanca R.E., Fontanellas A., et al. Successful treatment of haemodialysis-related porphyria cutanea tarda with erythropoietin. Nephrol Dial Transplant 9 (1994) 433-435
    • (1994) Nephrol Dial Transplant , vol.9 , pp. 433-435
    • Peces, R.1    de Salamanca, R.E.2    Fontanellas, A.3
  • 92
    • 0037948285 scopus 로고    scopus 로고
    • Diagnosis and management of the erythropoietic porphyrias
    • Murphy G.M. Diagnosis and management of the erythropoietic porphyrias. Dermatol Ther 16 (2003) 57-64
    • (2003) Dermatol Ther , vol.16 , pp. 57-64
    • Murphy, G.M.1
  • 93
    • 59949095105 scopus 로고    scopus 로고
    • Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance
    • Holme S.A., Whatley S.D., Roberts A.G., et al. Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance. J Invest Dermatol 129 (2009) 599-605
    • (2009) J Invest Dermatol , vol.129 , pp. 599-605
    • Holme, S.A.1    Whatley, S.D.2    Roberts, A.G.3
  • 94
    • 37049019507 scopus 로고    scopus 로고
    • Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria
    • Holme S.A., Worwood M., Anstey A.V., Elder G.H., and Badminton M.N. Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria. Blood 110 (2007) 4108-4110
    • (2007) Blood , vol.110 , pp. 4108-4110
    • Holme, S.A.1    Worwood, M.2    Anstey, A.V.3    Elder, G.H.4    Badminton, M.N.5
  • 95
    • 33846256111 scopus 로고    scopus 로고
    • Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice
    • Lyoumi S., Abitbol M., Andrieu V., et al. Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice. Blood 109 (2007) 811-818
    • (2007) Blood , vol.109 , pp. 811-818
    • Lyoumi, S.1    Abitbol, M.2    Andrieu, V.3
  • 96
    • 67449164823 scopus 로고    scopus 로고
    • Excessive erythrocyte ppix influences the hematologic status and iron metabolism in patients with dominant erythropoietic protoporphyria
    • Delaby C., Lyoumi S., Ducamp S., et al. Excessive erythrocyte ppix influences the hematologic status and iron metabolism in patients with dominant erythropoietic protoporphyria. Cell Mol Biol (Noisy-le-grand) 55 (2009) 45-52
    • (2009) Cell Mol Biol (Noisy-le-grand) , vol.55 , pp. 45-52
    • Delaby, C.1    Lyoumi, S.2    Ducamp, S.3
  • 97
    • 0033813299 scopus 로고    scopus 로고
    • New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care
    • Schneider-Yin X., Gouya L., Meier-Weinand A., Deybach J.C., and Minder E.I. New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care. Eur J Pediatr 159 (2000) 719-725
    • (2000) Eur J Pediatr , vol.159 , pp. 719-725
    • Schneider-Yin, X.1    Gouya, L.2    Meier-Weinand, A.3    Deybach, J.C.4    Minder, E.I.5
  • 98
    • 0024377861 scopus 로고
    • Hepatobiliary implications and complications in protoporphyria, a 20-year study
    • Doss M.O., and Frank M. Hepatobiliary implications and complications in protoporphyria, a 20-year study. Clin Biochem 22 (1989) 223-229
    • (1989) Clin Biochem , vol.22 , pp. 223-229
    • Doss, M.O.1    Frank, M.2
  • 99
    • 0031779289 scopus 로고    scopus 로고
    • Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria
    • Rufenacht U.B., Gouya L., Schneider-Yin X., et al. Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria. Am J Hum Genet 62 (1998) 1341-1352
    • (1998) Am J Hum Genet , vol.62 , pp. 1341-1352
    • Rufenacht, U.B.1    Gouya, L.2    Schneider-Yin, X.3
  • 100
    • 29244454253 scopus 로고    scopus 로고
    • Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria
    • Gouya L., Martin-Schmitt C., Robreau A.M., et al. Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Genet 78 (2006) 2-14
    • (2006) Am J Hum Genet , vol.78 , pp. 2-14
    • Gouya, L.1    Martin-Schmitt, C.2    Robreau, A.M.3
  • 101
    • 0036337671 scopus 로고    scopus 로고
    • The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH
    • Gouya L., Puy H., Robreau A.M., et al. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. Nat Genet 30 (2002) 27-28
    • (2002) Nat Genet , vol.30 , pp. 27-28
    • Gouya, L.1    Puy, H.2    Robreau, A.M.3
  • 102
    • 0033560096 scopus 로고    scopus 로고
    • Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation
    • Gouya L., Puy H., Lamoril J., et al. Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation. Blood 93 (1999) 2105-2110
    • (1999) Blood , vol.93 , pp. 2105-2110
    • Gouya, L.1    Puy, H.2    Lamoril, J.3
  • 103
    • 0030067853 scopus 로고    scopus 로고
    • Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele
    • Gouya L., Deybach J.C., Lamoril J., et al. Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele. Am J Hum Genet 58 (1996) 292-299
    • (1996) Am J Hum Genet , vol.58 , pp. 292-299
    • Gouya, L.1    Deybach, J.C.2    Lamoril, J.3
  • 104
    • 16544379257 scopus 로고    scopus 로고
    • Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease
    • Whatley S.D., Mason N.G., Khan M., et al. Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease. J Med Genet 41 (2004) e105
    • (2004) J Med Genet , vol.41
    • Whatley, S.D.1    Mason, N.G.2    Khan, M.3
  • 105
    • 33745912274 scopus 로고    scopus 로고
    • Acquired erythropoietic protoporphyria as a result of myelodysplasia causing loss of chromosome 18
    • Sarkany R.P., Ross G., and Willis F. Acquired erythropoietic protoporphyria as a result of myelodysplasia causing loss of chromosome 18. Br J Dermatol 155 (2006) 464-466
    • (2006) Br J Dermatol , vol.155 , pp. 464-466
    • Sarkany, R.P.1    Ross, G.2    Willis, F.3
  • 106
    • 30144434692 scopus 로고    scopus 로고
    • Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells
    • Goodwin R.G., Kell W.J., Laidler P., et al. Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells. Blood 107 (2006) 60-62
    • (2006) Blood , vol.107 , pp. 60-62
    • Goodwin, R.G.1    Kell, W.J.2    Laidler, P.3
  • 107
    • 0030911173 scopus 로고    scopus 로고
    • Erythropoietic protoporphyria
    • Cox T.M. Erythropoietic protoporphyria. J Inherit Metab Dis 20 (1997) 258-269
    • (1997) J Inherit Metab Dis , vol.20 , pp. 258-269
    • Cox, T.M.1
  • 108
    • 67449147376 scopus 로고    scopus 로고
    • A systematic review of treatment options for dermal photosensitivity in erythropoietic protoporphyria
    • Minder E.I., Schneider-Yin X., Steurer J., and Bachmann L.M. A systematic review of treatment options for dermal photosensitivity in erythropoietic protoporphyria. Cell Mol Biol 55 (2009) 84-97
    • (2009) Cell Mol Biol , vol.55 , pp. 84-97
    • Minder, E.I.1    Schneider-Yin, X.2    Steurer, J.3    Bachmann, L.M.4
  • 109
    • 58349109469 scopus 로고    scopus 로고
    • An alpha-melanocyte-stimulating hormone analogue in erythropoietic protoporphyria
    • Harms J., Lautenschlager S., Minder C.E., and Minder E.I. An alpha-melanocyte-stimulating hormone analogue in erythropoietic protoporphyria. N Engl J Med 360 (2009) 306-307
    • (2009) N Engl J Med , vol.360 , pp. 306-307
    • Harms, J.1    Lautenschlager, S.2    Minder, C.E.3    Minder, E.I.4
  • 110
    • 44449157828 scopus 로고    scopus 로고
    • Liver disease in erythropoietic protoporphyria: insights and implications for management
    • Anstey A.V., and Hift R.J. Liver disease in erythropoietic protoporphyria: insights and implications for management. Postgrad Med J 83 (2007) 739-748
    • (2007) Postgrad Med J , vol.83 , pp. 739-748
    • Anstey, A.V.1    Hift, R.J.2
  • 111
    • 30444434611 scopus 로고    scopus 로고
    • Liver transplantation for erythropoietic protoporphyria liver disease
    • McGuire B.M., Bonkovsky H.L., Carithers Jr. R.L., et al. Liver transplantation for erythropoietic protoporphyria liver disease. Liver Transpl 11 (2005) 1590-1596
    • (2005) Liver Transpl , vol.11 , pp. 1590-1596
    • McGuire, B.M.1    Bonkovsky, H.L.2    Carithers Jr., R.L.3
  • 112
    • 51349086909 scopus 로고    scopus 로고
    • Protection from phototoxic injury during surgery and endoscopy in erythropoietic protoporphyria
    • Wahlin S., Srikanthan N., Hamre B., Harper P., and Brun A. Protection from phototoxic injury during surgery and endoscopy in erythropoietic protoporphyria. Liver Transpl 14 (2008) 1340-1346
    • (2008) Liver Transpl , vol.14 , pp. 1340-1346
    • Wahlin, S.1    Srikanthan, N.2    Hamre, B.3    Harper, P.4    Brun, A.5
  • 113
    • 33947170983 scopus 로고    scopus 로고
    • Sequential liver and bone marrow transplantation for treatment of erythropoietic protoporphyria
    • Rand E.B., Bunin N., Cochran W., Ruchelli E., Olthoff K.M., and Bloomer J.R. Sequential liver and bone marrow transplantation for treatment of erythropoietic protoporphyria. Pediatrics 118 (2006) e1896-e1899
    • (2006) Pediatrics , vol.118
    • Rand, E.B.1    Bunin, N.2    Cochran, W.3    Ruchelli, E.4    Olthoff, K.M.5    Bloomer, J.R.6
  • 114
    • 51149108520 scopus 로고    scopus 로고
    • C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload
    • Whatley S.D., Ducamp S., Gouya L., et al. C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. Am J Hum Genet 83 (2008) 408-414
    • (2008) Am J Hum Genet , vol.83 , pp. 408-414
    • Whatley, S.D.1    Ducamp, S.2    Gouya, L.3
  • 116
    • 0029960531 scopus 로고    scopus 로고
    • A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria
    • Fontanellas A., Bensidhoum M., de Salamanca R.E., Tirado A.M., de Verneuil H., and Ged C. A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. Eur J Hum Genet 4 (1996) 274-282
    • (1996) Eur J Hum Genet , vol.4 , pp. 274-282
    • Fontanellas, A.1    Bensidhoum, M.2    de Salamanca, R.E.3    Tirado, A.M.4    de Verneuil, H.5    Ged, C.6
  • 119
    • 33947223723 scopus 로고    scopus 로고
    • Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria
    • Phillips J.D., Steensma D.P., Pulsipher M.A., Spangrude G.J., and Kushner J.P. Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. Blood 109 (2007) 2618-2621
    • (2007) Blood , vol.109 , pp. 2618-2621
    • Phillips, J.D.1    Steensma, D.P.2    Pulsipher, M.A.3    Spangrude, G.J.4    Kushner, J.P.5
  • 120
    • 0037244080 scopus 로고    scopus 로고
    • Congenital erythropoietic porphyria associated with myelodysplasia presenting in a 72-year6old man: report of a case and review of the literature
    • Kontos A.P., Ozog D., Bichakjian C., and Lim H.W. Congenital erythropoietic porphyria associated with myelodysplasia presenting in a 72-year6old man: report of a case and review of the literature. Br J Dermatol 48 (2003) 160-164
    • (2003) Br J Dermatol , vol.48 , pp. 160-164
    • Kontos, A.P.1    Ozog, D.2    Bichakjian, C.3    Lim, H.W.4
  • 121
    • 0034909848 scopus 로고    scopus 로고
    • Treatment of severe congenital erythropoietic porphyria by bone marrow transplantation
    • Harada F.A., Shwayder T.A., Desnick R.J., and Lim H.W. Treatment of severe congenital erythropoietic porphyria by bone marrow transplantation. J Am Acad Dermatol 45 (2001) 279-282
    • (2001) J Am Acad Dermatol , vol.45 , pp. 279-282
    • Harada, F.A.1    Shwayder, T.A.2    Desnick, R.J.3    Lim, H.W.4
  • 122
    • 0035141108 scopus 로고    scopus 로고
    • Treatment of congenital erythropoietic porphyria in children by allogeneic stem cell transplantation: a case report and review of the literature
    • Shaw P.H., Mancini A.J., McConnell J.P., Brown D., and Kletzel M. Treatment of congenital erythropoietic porphyria in children by allogeneic stem cell transplantation: a case report and review of the literature. Bone Marrow Transplant 27 (2001) 101-105
    • (2001) Bone Marrow Transplant , vol.27 , pp. 101-105
    • Shaw, P.H.1    Mancini, A.J.2    McConnell, J.P.3    Brown, D.4    Kletzel, M.5
  • 124
    • 38749144819 scopus 로고    scopus 로고
    • Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cells
    • Robert-Richard E., Moreau-Gaudry F., Lalanne M., et al. Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cells. Am J Hum Genet 82 (2008) 113-124
    • (2008) Am J Hum Genet , vol.82 , pp. 113-124
    • Robert-Richard, E.1    Moreau-Gaudry, F.2    Lalanne, M.3
  • 126
  • 127
    • 0026559437 scopus 로고
    • Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene
    • Llewellyn D.H., Smyth S.J., Elder G.H., Hutchesson A.C., Rattenbury J.M., and Smith M.F. Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene. Hum Genet 89 (1992) 97-98
    • (1992) Hum Genet , vol.89 , pp. 97-98
    • Llewellyn, D.H.1    Smyth, S.J.2    Elder, G.H.3    Hutchesson, A.C.4    Rattenbury, J.M.5    Smith, M.F.6
  • 128
    • 0031944103 scopus 로고    scopus 로고
    • Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband
    • Frank J., McGrath J., Lam H., Graham R.M., Hawk J.L., and Christiano A.M. Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband. J Invest Dermatol 110 (1998) 452-455
    • (1998) J Invest Dermatol , vol.110 , pp. 452-455
    • Frank, J.1    McGrath, J.2    Lam, H.3    Graham, R.M.4    Hawk, J.L.5    Christiano, A.M.6
  • 129
    • 7844239345 scopus 로고    scopus 로고
    • Molecular characterization of homozygous variegate porphyria
    • Roberts A.G., Puy H., Dailey T.A., et al. Molecular characterization of homozygous variegate porphyria. Hum Mol Genet 7 (1998) 1921-1925
    • (1998) Hum Mol Genet , vol.7 , pp. 1921-1925
    • Roberts, A.G.1    Puy, H.2    Dailey, T.A.3
  • 130
    • 0035052281 scopus 로고    scopus 로고
    • Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect
    • Kauppinen R., Timonen K., von und zu Fraunberg M., et al. Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect. J Invest Dermatol 116 (2001) 610-613
    • (2001) J Invest Dermatol , vol.116 , pp. 610-613
    • Kauppinen, R.1    Timonen, K.2    von und zu Fraunberg, M.3
  • 131
    • 0028347291 scopus 로고
    • Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms
    • Martasek P., Nordmann Y., and Grandchamp B. Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms. Hum Mol Genet 3 (1994) 477-480
    • (1994) Hum Mol Genet , vol.3 , pp. 477-480
    • Martasek, P.1    Nordmann, Y.2    Grandchamp, B.3
  • 132
    • 27544443960 scopus 로고    scopus 로고
    • Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria
    • Schmitt C., Gouya L., Malonova E., et al. Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria. Hum Mol Genet 14 (2005) 3089-3098
    • (2005) Hum Mol Genet , vol.14 , pp. 3089-3098
    • Schmitt, C.1    Gouya, L.2    Malonova, E.3
  • 133
    • 0032519497 scopus 로고    scopus 로고
    • Neonatal hemolytic anemia due to inherited harderoporphyria: clinical characteristics and molecular basis
    • Lamoril J., Puy H., Gouya L., et al. Neonatal hemolytic anemia due to inherited harderoporphyria: clinical characteristics and molecular basis. Blood 91 (1998) 1453-1457
    • (1998) Blood , vol.91 , pp. 1453-1457
    • Lamoril, J.1    Puy, H.2    Gouya, L.3
  • 134
    • 33846574157 scopus 로고    scopus 로고
    • ALAD porphyria is a conformational disease
    • Jaffe E.K., and Stith L. ALAD porphyria is a conformational disease. Am J Hum Genet 80 (2007) 329-337
    • (2007) Am J Hum Genet , vol.80 , pp. 329-337
    • Jaffe, E.K.1    Stith, L.2
  • 135
    • 0031783271 scopus 로고    scopus 로고
    • 5-Aminolevulinic acid dehydratase deficiency porphyria: a twenty-year clinical and biochemical follow-up
    • Gross U., Sassa S., Jacob K., et al. 5-Aminolevulinic acid dehydratase deficiency porphyria: a twenty-year clinical and biochemical follow-up. Clin Chem 44 (1998) 1892-1896
    • (1998) Clin Chem , vol.44 , pp. 1892-1896
    • Gross, U.1    Sassa, S.2    Jacob, K.3
  • 136
    • 4344615560 scopus 로고    scopus 로고
    • The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany
    • Doss M.O., Stauch T., Gross U., et al. The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany. J Inherit Metab Dis 27 (2004) 529-536
    • (2004) J Inherit Metab Dis , vol.27 , pp. 529-536
    • Doss, M.O.1    Stauch, T.2    Gross, U.3
  • 137
    • 0020681875 scopus 로고
    • Hereditary tyrosinemia and the heme biosynthetic pathway. Profound inhibition of delta-aminolevulinic acid dehydratase activity by succinylacetone
    • Sassa S., and Kappas A. Hereditary tyrosinemia and the heme biosynthetic pathway. Profound inhibition of delta-aminolevulinic acid dehydratase activity by succinylacetone. J Clin Invest 71 (1983) 625-634
    • (1983) J Clin Invest , vol.71 , pp. 625-634
    • Sassa, S.1    Kappas, A.2
  • 138
    • 0028133021 scopus 로고
    • Neurological crisis in type 1 hereditary thyrosinemia
    • Zuazo E., Garaizar C., Labayru M., and Prats J.M. Neurological crisis in type 1 hereditary thyrosinemia. Neurologia 9 (1994) 296-299
    • (1994) Neurologia , vol.9 , pp. 296-299
    • Zuazo, E.1    Garaizar, C.2    Labayru, M.3    Prats, J.M.4
  • 139
    • 84944295476 scopus 로고
    • Liver transplantation in a boy with acute porphyria due to aminolaevulinate dehydratase deficiency
    • Thunell S., Henrichson A., Floderus Y., et al. Liver transplantation in a boy with acute porphyria due to aminolaevulinate dehydratase deficiency. Eur J Clin Chem Clin Biochem 30 (1992) 599-606
    • (1992) Eur J Clin Chem Clin Biochem , vol.30 , pp. 599-606
    • Thunell, S.1    Henrichson, A.2    Floderus, Y.3
  • 140
    • 33847138626 scopus 로고    scopus 로고
    • European porphyria initiative (EPI): a platform to develop a common approach to the management of porphyrias and to promote research in the field
    • Deybach J.C., Badminton M., Puy H., et al. European porphyria initiative (EPI): a platform to develop a common approach to the management of porphyrias and to promote research in the field. Physiol Res 55 suppl 2 (2006) 67-73
    • (2006) Physiol Res , vol.55 , Issue.SUPPL. 2 , pp. 67-73
    • Deybach, J.C.1    Badminton, M.2    Puy, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.