-
1
-
-
3042750507
-
The porphyrias
-
Fitzpatrick TB, Freedberg IM, Eisen AZ, Wolff K, Austen KF, Goldsmith LA, Katz SI, eds. McGraw Hill
-
Bickers DR, Frank J. The porphyrias. In: Fitzpatrick TB, Freedberg IM, Eisen AZ, Wolff K, Austen KF, Goldsmith LA, Katz SI, eds. Dermatology in general medicine, edition 6. McGraw Hill, 2003: 1435-66.
-
(2003)
Dermatology in General Medicine, Edition 6
, pp. 1435-1466
-
-
Bickers, D.R.1
Frank, J.2
-
2
-
-
0018084610
-
Familial and sporadic porphyria cutanea: Two different diseases
-
de Verneuil H, Aitken G, Nordmann Y. Familial and sporadic porphyria cutanea: two different diseases. Hum Genet 1978; 44: 145-51.
-
(1978)
Hum Genet
, vol.44
, pp. 145-151
-
-
De Verneuil, H.1
Aitken, G.2
Nordmann, Y.3
-
3
-
-
0024365248
-
Genetics and pathogenesis of human uroporphyrinogen decarboxylase defects
-
Elder GH, Roberts AG, de Salamanca RE. Genetics and pathogenesis of human uroporphyrinogen decarboxylase defects. Clin Biochem 1989; 22: 163-8.
-
(1989)
Clin Biochem
, vol.22
, pp. 163-168
-
-
Elder, G.H.1
Roberts, A.G.2
De Salamanca, R.E.3
-
4
-
-
16544392858
-
The molecular basis of porphyria cutanea tarda in Chile: Identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene
-
Poblete-Gutierrez P, Mendez M, Wiederholt T, Merk HF, Fontanellas A, Wolff C, Frank J. The molecular basis of porphyria cutanea tarda in Chile: identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene. Exp Dermatol 2004; 13: 372-9.
-
(2004)
Exp Dermatol
, vol.13
, pp. 372-379
-
-
Poblete-Gutierrez, P.1
Mendez, M.2
Wiederholt, T.3
Merk, H.F.4
Fontanellas, A.5
Wolff, C.6
Frank, J.7
-
5
-
-
3042841032
-
Human URO-D defects
-
Orfanos CE, Stadler R, Gollnick H, eds. Berlin: Springer-Verlag
-
Elder GH. Human URO-D defects. In: Orfanos CE, Stadler R, Gollnick H, eds. Dermatology in five continents. Berlin: Springer-Verlag, 1988: 857-60.
-
(1988)
Dermatology in Five Continents
, pp. 857-860
-
-
Elder, G.H.1
-
6
-
-
1642447109
-
Subepidermal blistering disorders: A clinical and histopathologic review
-
Kolanko E, Bickle K, Keehn C, Glass LF. Subepidermal blistering disorders: a clinical and histopathologic review. Semin Cutan Med Surg 2004; 23: 10-8.
-
(2004)
Semin Cutan Med Surg
, vol.23
, pp. 10-18
-
-
Kolanko, E.1
Bickle, K.2
Keehn, C.3
Glass, L.F.4
-
7
-
-
0033739090
-
Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda
-
Brady JJ, Jackson HA, Roberts AG, Morgan RR, Whatley SD, Rowlands GL, Darby C, Shudell E, Watson R, Paiker J, Worwood MW, Elder GH. Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda. J Invest Dermatol 2000; 115: 868-74.
-
(2000)
J Invest Dermatol
, vol.115
, pp. 868-874
-
-
Brady, J.J.1
Jackson, H.A.2
Roberts, A.G.3
Morgan, R.R.4
Whatley, S.D.5
Rowlands, G.L.6
Darby, C.7
Shudell, E.8
Watson, R.9
Paiker, J.10
Worwood, M.W.11
Elder, G.H.12
-
8
-
-
0028190209
-
Porphyria cutanea tarda, chronic liver disease caused by the C virus and hepatocarcinoma. Clinical case
-
Armas R, Krause P, Wolff C. Porphyria cutanea tarda, chronic liver disease caused by the C virus and hepatocarcinoma. Clinical case. Rev Med Chil 1994; 122: 72-4.
-
(1994)
Rev Med Chil
, vol.122
, pp. 72-74
-
-
Armas, R.1
Krause, P.2
Wolff, C.3
-
9
-
-
0030911173
-
Erytthropoietic protoporphyria
-
Cox TM. Erytthropoietic protoporphyria. J Inherit Metab Dis 1997; 20: 258-69.
-
(1997)
J Inherit Metab Dis
, vol.20
, pp. 258-269
-
-
Cox, T.M.1
-
11
-
-
0025935128
-
Severe liver disease in protoporphyria
-
Vermeer BJ, Wuepper KD, van Vloten WA, Baart de la Faille H, van der Schoroeff JG, eds. Karger
-
Frank M, Doss OD. Severe liver disease in protoporphyria. In: Vermeer BJ, Wuepper KD, van Vloten WA, Baart de la Faille H, van der Schoroeff JG, eds. Curr Probl Dermatol, Volume 20. Karger, 1991: 160-7.
-
(1991)
Curr Probl Dermatol
, vol.20
, pp. 160-167
-
-
Frank, M.1
Doss, O.D.2
-
12
-
-
0027362026
-
Terminal hepatic failure in erythropoietic protoporphyria
-
Mercurio MG, Prince G, Weber FL, Jacobs G, Zaim MT, Bickers DR. Terminal hepatic failure in erythropoietic protoporphyria. J Am Acad Dermatol 1993; 29: 829-33.
-
(1993)
J Am Acad Dermatol
, vol.29
, pp. 829-833
-
-
Mercurio, M.G.1
Prince, G.2
Weber, F.L.3
Jacobs, G.4
Zaim, M.T.5
Bickers, D.R.6
-
13
-
-
0036337671
-
The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH
-
Gouya L, Puy H, Robreau AM, et al. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. Nat Med 2002; 30: 27-8.
-
(2002)
Nat Med
, vol.30
, pp. 27-28
-
-
Gouya, L.1
Puy, H.2
Robreau, A.M.3
-
14
-
-
13844310841
-
Increased mitochondrial respiratory chain enzyme activities correlate with minor extent of liver damage in mice suffering from erythropoietic protoporphyria
-
Navarro S, Del Hoyo P, Campos Y, Abitbol M, Moran-Jimenez MJ, Garcia-Bravo M, Ochoa P, Grau M, Montagutelli X, Frank J, Garesse R, Arenas J, de Salamanca RE, Fontanellas A. Increased mitochondrial respiratory chain enzyme activities correlate with minor extent of liver damage in mice suffering from erythropoietic protoporphyria. Exp Dermatol 2005; 14: 26-33.
-
(2005)
Exp Dermatol
, vol.14
, pp. 26-33
-
-
Navarro, S.1
Del Hoyo, P.2
Campos, Y.3
Abitbol, M.4
Moran-Jimenez, M.J.5
Garcia-Bravo, M.6
Ochoa, P.7
Grau, M.8
Montagutelli, X.9
Frank, J.10
Garesse, R.11
Arenas, J.12
De Salamanca, R.E.13
Fontanellas, A.14
-
15
-
-
0036283601
-
Congenital erythropoietic porphyria: Advances in pathogenesis and treatment
-
Desnick RJ, Astrin KH. Congenital erythropoietic porphyria: advances in pathogenesis and treatment. Br J Haematol 2002; 117: 779-95.
-
(2002)
Br J Haematol
, vol.117
, pp. 779-795
-
-
Desnick, R.J.1
Astrin, K.H.2
-
16
-
-
0032466060
-
Congenital erythropoietic porphyria
-
Fritsch C, Lang K, Bolsen K, Lehmann P, Ruzicka T. Congenital erythropoietic porphyria. Skin Pharmacol Appl Skin Physiol 1998; 11: 347-57.
-
(1998)
Skin Pharmacol Appl Skin Physiol
, vol.11
, pp. 347-357
-
-
Fritsch, C.1
Lang, K.2
Bolsen, K.3
Lehmann, P.4
Ruzicka, T.5
-
17
-
-
0023618810
-
Coupled-enzyme and direct assays for uroporphyrinogen III synthase activity in human erythrocytes and cultured lymphoblasts. Enzymatic diagnosis of heterozygotes and homozygotes with congenital erythropoietic porphyria
-
Tsai SF, Bishop DF, Desnick RJ. Coupled-enzyme and direct assays for uroporphyrinogen III synthase activity in human erythrocytes and cultured lymphoblasts. Enzymatic diagnosis of heterozygotes and homozygotes with congenital erythropoietic porphyria. Anal Biochem 1987; 166: 120-33.
-
(1987)
Anal Biochem
, vol.166
, pp. 120-133
-
-
Tsai, S.F.1
Bishop, D.F.2
Desnick, R.J.3
-
19
-
-
0035891464
-
Diseases associated with photosensitivity
-
Murphy GM. Diseases associated with photosensitivity. J Photochem Photobiol B 2001; 64: 93-8.
-
(2001)
J Photochem Photobiol B
, vol.64
, pp. 93-98
-
-
Murphy, G.M.1
-
21
-
-
0018692260
-
New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation
-
Doss M, von Tiepermann R, Schneider J, Schmid H. New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation. Klin Wochenschr 1979; 57: 1123-7.
-
(1979)
Klin Wochenschr
, vol.57
, pp. 1123-1127
-
-
Doss, M.1
Von Tiepermann, R.2
Schneider, J.3
Schmid, H.4
-
22
-
-
0030987819
-
The little imitator-porphyria: A neuropsychiatric disorder
-
Crimlisk HL. The little imitator-porphyria: a neuropsychiatric disorder. J Neurol Neurosurg Psychiatry 1997; 62: 319-28.
-
(1997)
J Neurol Neurosurg Psychiatry
, vol.62
, pp. 319-328
-
-
Crimlisk, H.L.1
-
23
-
-
0031066287
-
Drugs in the acute porphyrias: Toxicogenetic diseases
-
Moore MR, Hift RJ. Drugs in the acute porphyrias: Toxicogenetic diseases. Cell Mol Biol 1997; 43: 89-94.
-
(1997)
Cell Mol Biol
, vol.43
, pp. 89-94
-
-
Moore, M.R.1
Hift, R.J.2
-
24
-
-
14844362079
-
Recommendations for the diagnosis and treatment of the acute porphyrias
-
Anderson KE, Bloomer JR, Bonkovsky HL, Kushner JP, Pierach CA, Pimstone NR, Desnick RJ. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med 2005; 142: 439-50.
-
(2005)
Ann Intern Med
, vol.142
, pp. 439-450
-
-
Anderson, K.E.1
Bloomer, J.R.2
Bonkovsky, H.L.3
Kushner, J.P.4
Pierach, C.A.5
Pimstone, N.R.6
Desnick, R.J.7
-
25
-
-
0036840651
-
Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families
-
Kauppinen R, von und zu Fraunberg M. Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families. Clin Chem 2002; 48: 1891-900.
-
(2002)
Clin Chem
, vol.48
, pp. 1891-1900
-
-
Von Kauppinen, R.1
Zu Fraunberg, M.2
-
28
-
-
0031889894
-
Hereditary coproporphyria
-
Martasek P. Hereditary coproporphyria. Semin Liver Dis 1998; 18: 25-32.
-
(1998)
Semin Liver Dis
, vol.18
, pp. 25-32
-
-
Martasek, P.1
-
29
-
-
0024451399
-
Acute intermittent porphyria. More than just abdominal pain
-
Holmann JR, Green JB. Acute intermittent porphyria. More than just abdominal pain. Postgrad Med 1989; 86: 295-8.
-
(1989)
Postgrad Med
, vol.86
, pp. 295-298
-
-
Holmann, J.R.1
Green, J.B.2
-
30
-
-
12344254822
-
Porphyrias
-
Kauppinen R. Porphyrias. Lancet 2005; 365: 241-52.
-
(2005)
Lancet
, vol.365
, pp. 241-252
-
-
Kauppinen, R.1
-
31
-
-
0030278312
-
Review: Molecular pathogenesis of hepatic acute porphyrias
-
Grandchamp B, Puy H, Lamoril J, Deybach JC, Nordmann Y. Review: molecular pathogenesis of hepatic acute porphyrias. Gastroenterol Hepatol 1996; 11: 1046-52.
-
(1996)
Gastroenterol Hepatol
, vol.11
, pp. 1046-1052
-
-
Grandchamp, B.1
Puy, H.2
Lamoril, J.3
Deybach, J.C.4
Nordmann, Y.5
-
33
-
-
0035724150
-
The management of porphyria cutanea tarda
-
Sarkany RPE. The management of porphyria cutanea tarda. Clin Exp Dermatol 2001; 26: 225-32.
-
(2001)
Clin Exp Dermatol
, vol.26
, pp. 225-232
-
-
Sarkany, R.P.E.1
-
34
-
-
0037341145
-
Hemochromatosis (HFE) gene mutations and response to chloroquine in porphyria cutanea tarda
-
Stölzel U, Köstler E, Schuppan D, Richter M, Wollina U, Doss MO, Wittekind C, Tannapfel A. Hemochromatosis (HFE) gene mutations and response to chloroquine in porphyria cutanea tarda. Arch Dermatol 2003; 139: 309-13.
-
(2003)
Arch Dermatol
, vol.139
, pp. 309-313
-
-
Stölzel, U.1
Köstler, E.2
Schuppan, D.3
Richter, M.4
Wollina, U.5
Doss, M.O.6
Wittekind, C.7
Tannapfel, A.8
-
35
-
-
0034521694
-
Porphyrins, porphyrin metabolism and porphyrias. II. Diagnosis and monitoring in the acute porphyrias
-
Thunell S, Harper P, Brock A, Petersen NE. Porphyrins, porphyrin metabolism and porphyrias. II. Diagnosis and monitoring in the acute porphyrias. Scand J Clin Lab Invest 2000; 60: 541-59.
-
(2000)
Scand J Clin Lab Invest
, vol.60
, pp. 541-559
-
-
Thunell, S.1
Harper, P.2
Brock, A.3
Petersen, N.E.4
-
36
-
-
0016750016
-
Effects of hematin in hepatic porphyria. Further studies
-
Dhar GJ, Bossenmaier I, Petryka ZJ, Cardinal R, Watson CJ. Effects of hematin in hepatic porphyria. Further studies. Ann Intern Med 1975; 83: 20-30.
-
(1975)
Ann Intern Med
, vol.83
, pp. 20-30
-
-
Dhar, G.J.1
Bossenmaier, I.2
Petryka, Z.J.3
Cardinal, R.4
Watson, C.J.5
-
37
-
-
0022641654
-
Instability of hematin used in the treatment of acute hepatic porphyria
-
Goetsch CA, Bissell DM. Instability of hematin used in the treatment of acute hepatic porphyria. N Engl J Med 1986; 315: 235-8.
-
(1986)
N Engl J Med
, vol.315
, pp. 235-238
-
-
Goetsch, C.A.1
Bissell, D.M.2
-
38
-
-
0031940457
-
Acute porphyria: Treatment with heme
-
Tenhunen R, Mustajoki P. Acute porphyria: treatment with heme. Semin Liver Dis 1998; 18: 53-5.
-
(1998)
Semin Liver Dis
, vol.18
, pp. 53-55
-
-
Tenhunen, R.1
Mustajoki, P.2
-
39
-
-
0027235754
-
Early administration of heme arginate for acute porphyric attacks
-
Mustajoki P, Nordmann Y. Early administration of heme arginate for acute porphyric attacks. Arch Intern Med 1993; 153: 2004-8.
-
(1993)
Arch Intern Med
, vol.153
, pp. 2004-2008
-
-
Mustajoki, P.1
Nordmann, Y.2
-
40
-
-
0029132314
-
Variegate porphyria: Diagnostic value of fluorometric scanning of plasma porphyrins
-
Da Silva V, Simonin S, Deybach JC, Puy H, Nordmann Y. Variegate porphyria: diagnostic value of fluorometric scanning of plasma porphyrins. Clin Chim Acta 1995; 238: 163-8.
-
(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
|