-
2
-
-
47549116447
-
The porphyrias
-
D.R. Bickers, and J. Frank The porphyrias K. Wolff, L.A. Goldsmith, S.I. Katz, B.A. Gilchrest, A. Paller, D.J. Leffell, Fitzpatrick's dermatology in general medicine 2007 McGraw Hill 1228 1256
-
(2007)
Fitzpatrick's Dermatology in General Medicine
, pp. 1228-1256
-
-
Bickers, D.R.1
Frank, J.2
-
5
-
-
0025331729
-
The cutaneous porphyrias
-
G.H. Elder The cutaneous porphyrias Semin Dermatol 9 1990 63 69
-
(1990)
Semin Dermatol
, vol.9
, pp. 63-69
-
-
Elder, G.H.1
-
7
-
-
4344615560
-
The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany
-
M.O. Doss, T. Stauch, U. Gross, M. Renz, R. Akagi, and M. Doss-Frank 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
Renz, M.4
Akagi, R.5
Doss-Frank, M.6
-
8
-
-
0030987819
-
The little imitator-porphyria: A neuropsychiatric disorder
-
H.L. Crimlisk 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
-
9
-
-
0030140415
-
A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria
-
P.N. Meissner, T.A. Dailey, R.J. Hift, M. Ziman, A.V. Corrigall, and A.G. Roberts 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
Ziman, M.4
Corrigall, A.V.5
Roberts, A.G.6
-
11
-
-
0026822384
-
The hepatic porphyrias: Experience with 105 cases
-
R. Armas, C. Wolff, P. Krause, P. Chaná, A. Parraguez, and J. Soto The hepatic porphyrias: experience with 105 cases Rev Med Chil 120 1992 259 266
-
(1992)
Rev Med Chil
, vol.120
, pp. 259-266
-
-
Armas, R.1
Wolff, C.2
Krause, P.3
Chaná, P.4
Parraguez, A.5
Soto, J.6
-
12
-
-
70249137583
-
Clinical aspects of acute intermittent porphyria in northern Sweden: A population-based study
-
I. Bylesjo, A. Wikberg, and C. Andersson 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
-
13
-
-
0042343896
-
Acute intermittent porphyria in women: Clinical expression, use and experience of exogenous sex hormones. A population-based study in northern Sweden
-
C. Andersson, E. Innala, and T. Backstrom 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
-
14
-
-
0031971162
-
Linkage disequilibrium analysis in a recently founded population: Evaluation of the variegate porphyria founder in South African Afrikaners
-
J.Z. Groenewald, J. Liebenberg, I.M. Groenewald, and L. Warnich Linkage disequilibrium analysis in a recently founded population: evaluation of the variegate porphyria founder in South African Afrikaners Am J Hum Genet 62 1998 1254 1258
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1254-1258
-
-
Groenewald, J.Z.1
Liebenberg, J.2
Groenewald, I.M.3
Warnich, L.4
-
15
-
-
0035101824
-
Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from Chile
-
J. Frank, V.M. Aita, W. Ahmad, H. Lam, C. Wolff, and A.M. Christiano Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from Chile Hum Hered 51 2001 160 168
-
(2001)
Hum Hered
, vol.51
, pp. 160-168
-
-
Frank, J.1
Aita, V.M.2
Ahmad, W.3
Lam, H.4
Wolff, C.5
Christiano, A.M.6
-
17
-
-
0018855883
-
A plasma porphyrin fluorescence marker for variegate porphyria
-
M.B. Poh-Fitzpatrick A plasma porphyrin fluorescence marker for variegate porphyria Arch Dermatol 116 1980 543 547
-
(1980)
Arch Dermatol
, vol.116
, pp. 543-547
-
-
Poh-Fitzpatrick, M.B.1
-
18
-
-
0035016319
-
Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria
-
J. Lamoril, H. Puy, S.D. Whatley, C. Martin, J.R. Woolf, and V. Da Silva 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
Martin, C.4
Woolf, J.R.5
Da Silva, V.6
-
19
-
-
0030278312
-
Review: Molecular pathogenesis of hepatic acute porphyrias
-
B. Grandchamp, H. Puy, J. Lamoril, J.C. Deybach, and Y. Nordmann Review: molecular pathogenesis of hepatic acute porphyrias Gastroenterol Hepatol 11 1996 1046 1052
-
(1996)
Gastroenterol Hepatol
, vol.11
, pp. 1046-1052
-
-
Grandchamp, B.1
Puy, H.2
Lamoril, J.3
Deybach, J.C.4
Nordmann, Y.5
-
20
-
-
0022641654
-
Instability of hematin used in the treatment of acute hepatic porphyria
-
C.A. Goetsch, and D.M. Bissell Instability of hematin used in the treatment of acute hepatic porphyria N Engl J Med 315 1986 235 238
-
(1986)
N Engl J Med
, vol.315
, pp. 235-238
-
-
Goetsch, C.A.1
Bissell, D.M.2
-
21
-
-
0031940457
-
Acute porphyria: Treatment with heme
-
R. Tenhunen, and P. Mustajoki Acute porphyria: treatment with heme Semin Liver Dis 18 1998 53 55
-
(1998)
Semin Liver Dis
, vol.18
, pp. 53-55
-
-
Tenhunen, R.1
Mustajoki, P.2
-
22
-
-
0027235754
-
Early administration of heme arginate for acute porphyric attacks
-
P. Mustajoki, and Y. Nordmann 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
-
23
-
-
33847138626
-
European porphyria initiative (EPI): A platform to develop a common approach to the management of porphyrias and to promote research in the field
-
J.C. Deybach, M. Badminton, H. Puy, S. Sandberg, J. Frank, and P. Harper 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 S67 S73
-
(2006)
Physiol Res
, vol.55
, Issue.SUPPL. 2
-
-
Deybach, J.C.1
Badminton, M.2
Puy, H.3
Sandberg, S.4
Frank, J.5
Harper, P.6
-
24
-
-
77958098308
-
Hydroxymethylbilane synthase (HMBS) deficiency
-
S. Thunell Hydroxymethylbilane synthase (HMBS) deficiency R.A. Pagon, T.C. Bird, C.R. Dolan, K. Stephens, GeneReviews [Internet] 2010 University of Washington Seattle (WA) 1993 2005
-
(2010)
GeneReviews [Internet]
, pp. 1993-2005
-
-
Thunell, S.1
-
25
-
-
67449119677
-
Neurological manifestations of acute intermittent porphyria
-
E. Pischik, and R. Kauppinen Neurological manifestations of acute intermittent porphyria Cell Mol Biol (Noisy-le-grand) 55 2009 72 83
-
(2009)
Cell Mol Biol (Noisy-le-grand)
, vol.55
, pp. 72-83
-
-
Pischik, E.1
Kauppinen, R.2
-
26
-
-
0033776409
-
Renal symptomatology in patients with acute intermittent porphyria. A population-based study
-
C. Andersson, A. Wikberg, B. Stegmayr, and F. Lithner Renal symptomatology in patients with acute intermittent porphyria. A population-based study J Intern Med 248 2000 319 325
-
(2000)
J Intern Med
, vol.248
, pp. 319-325
-
-
Andersson, C.1
Wikberg, A.2
Stegmayr, B.3
Lithner, F.4
-
27
-
-
67449147378
-
Porphyrin precursors and porphyrins in three patients with acute intermittent porphyria and end-stage renal disease under different therapy regimes
-
E. Sardh, D.E. Andersson, A. Henrichson, and P. Harper Porphyrin precursors and porphyrins in three patients with acute intermittent porphyria and end-stage renal disease under different therapy regimes Cell Mol Biol (Noisy-le-grand) 55 2009 66 71
-
(2009)
Cell Mol Biol (Noisy-le-grand)
, vol.55
, pp. 66-71
-
-
Sardh, E.1
Andersson, D.E.2
Henrichson, A.3
Harper, P.4
-
28
-
-
47249128185
-
Trends in mortality from hepatocellular carcinoma in Europe, 1980-2004
-
DOI 10.1002/hep.22312
-
C. Bosetti, F. Levi, P. Boffetta, F. Lucchini, E. Negri, and C. La Vecchia Trends in mortality from hepatocellular carcinoma in Europe, 1980-2004 Hepatol 48 2008 137 145 (Pubitemid 351980469)
-
(2008)
Hepatology
, vol.48
, Issue.1
, pp. 137-145
-
-
Bosetti, C.1
Levi, F.2
Boffetta, P.3
Lucchini, F.4
Negri, E.5
La Vecchia, C.6
-
29
-
-
0021251029
-
Aetiological aspects on primary liver cancer with special regard to alcohol, organic solvents and acute intermittent porphyria, an epidemiological investigation
-
L. Hardell, N.O. Bengtsson, U. Jonsson, S. Eriksson, and L.G. Larsson Aetiological aspects on primary liver cancer with special regard to alcohol, organic solvents and acute intermittent porphyria, an epidemiological investigation Br J Cancer 50 1984 389 397
-
(1984)
Br J Cancer
, vol.50
, pp. 389-397
-
-
Hardell, L.1
Bengtsson, N.O.2
Jonsson, U.3
Eriksson, S.4
Larsson, L.G.5
-
30
-
-
0021223597
-
Hepatocellular carcinoma in patients with acute intermittent porphyria
-
F. Lithner, and L. Wetterberg Hepatocellular carcinoma in patients with acute intermittent porphyria Acta Med Scand 215 1984 271 274
-
(1984)
Acta Med Scand
, vol.215
, pp. 271-274
-
-
Lithner, F.1
Wetterberg, L.2
-
31
-
-
0023853558
-
Acute hepatic porphyria and hepatocellular carcinoma
-
R. Kauppinen, and P. Mustajoki 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
-
32
-
-
0034098286
-
Hepatocellular carcinoma in patients with acute hepatic porphyria: Frequency of occurrence and related factors
-
C. Andant, H. Puy, C. Bogard, J. Faivre, J.C. Soulé, and Y. Nordmann 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
Faivre, J.4
Soulé, J.C.5
Nordmann, Y.6
-
33
-
-
6344229336
-
Refractory status epilepticus due to acute hepatic porphyria in a pregnant woman: Induced abortion as the sole therapeutic option?
-
K. Engelhardt, E. Trinka, G. Franz, I. Unterberger, M. Spiegel, and R. Beer Refractory status epilepticus due to acute hepatic porphyria in a pregnant woman: induced abortion as the sole therapeutic option? Eur J Neurol 11 2004 693 697
-
(2004)
Eur J Neurol
, vol.11
, pp. 693-697
-
-
Engelhardt, K.1
Trinka, E.2
Franz, G.3
Unterberger, I.4
Spiegel, M.5
Beer, R.6
-
34
-
-
33847010533
-
Unusual manifestation of acute hepatic porphyria in pregnancy
-
A. Weinzierl, C. Brezinka, and K. Engelhardt Unusual manifestation of acute hepatic porphyria in pregnancy Fetal Diagn Ther 22 2007 136 138
-
(2007)
Fetal Diagn Ther
, vol.22
, pp. 136-138
-
-
Weinzierl, A.1
Brezinka, C.2
Engelhardt, K.3
-
35
-
-
33745699906
-
Medical termination of pregnancy in acute intermittent porphyria
-
M.T. Sahu, S. Rajaram, A.K. Saxena, N. Goel, and S. Ghumman Medical termination of pregnancy in acute intermittent porphyria Gynecol Obstet Invest 62 2006 38 40
-
(2006)
Gynecol Obstet Invest
, vol.62
, pp. 38-40
-
-
Sahu, M.T.1
Rajaram, S.2
Saxena, A.K.3
Goel, N.4
Ghumman, S.5
-
36
-
-
33745020102
-
Treatment of an acute attack of porphyria during pregnancy
-
M.N. Badminton, and J.C. Deybach 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
-
37
-
-
77957560916
-
A retrospective analysis of outcome of pregnancy in patients with acute porphyria
-
J.T. Marsden, and D.C. Rees A retrospective analysis of outcome of pregnancy in patients with acute porphyria J Inherit Metab Dis 2010 published electronically on June 22
-
(2010)
J Inherit Metab Dis
-
-
Marsden, J.T.1
Rees, D.C.2
-
39
-
-
68549098253
-
Identification and characterization of HMBS gene mutations in Spanish patients with acute intermittent porphyria
-
M. Méndez, M.J. Morán-Jiménez, S. Gomez-Abecia, M. García-Bravo, M.C. Garrido-Astray, and A. Fontanellas Identification and characterization of HMBS gene mutations in Spanish patients with acute intermittent porphyria Cell Mol Biol (Noisy-le-grand) 55 2009 55 63
-
(2009)
Cell Mol Biol (Noisy-le-grand)
, vol.55
, pp. 55-63
-
-
Méndez, M.1
Morán-Jiménez, M.J.2
Gomez-Abecia, S.3
García-Bravo, M.4
Garrido-Astray, M.C.5
Fontanellas, A.6
-
40
-
-
49649105203
-
Montalcino, a zebrafish model for variegate porphyria
-
K.A. Dooley, P.G. Fraenkel, N.B. Langer, B. Schmid, A.J. Davidson, and G. Weber Montalcino, a zebrafish model for variegate porphyria Exp Hematol 36 2008 1132 1142
-
(2008)
Exp Hematol
, vol.36
, pp. 1132-1142
-
-
Dooley, K.A.1
Fraenkel, P.G.2
Langer, N.B.3
Schmid, B.4
Davidson, A.J.5
Weber, G.6
-
41
-
-
33645788065
-
Characterization of the heme synthesis enzyme coproporphyrinogen oxidase (CPO) in zebrafish erythrogenesis
-
R. Hanaoka, S. Katayama, I.B. Dawid, and A. Kawahara Characterization of the heme synthesis enzyme coproporphyrinogen oxidase (CPO) in zebrafish erythrogenesis Genes Cells 11 2006 293 303
-
(2006)
Genes Cells
, vol.11
, pp. 293-303
-
-
Hanaoka, R.1
Katayama, S.2
Dawid, I.B.3
Kawahara, A.4
-
42
-
-
0035038749
-
Zinc mesoporphyrin represses induced hepatic 5-aminolevulinic acid synthase and reduces heme oxygenase activity in a mouse model of acute hepatic porphyria
-
M.M. Schuurmans, F. Hoffmann, R.L. Lindberg, and U.A. Meyer Zinc mesoporphyrin represses induced hepatic 5-aminolevulinic acid synthase and reduces heme oxygenase activity in a mouse model of acute hepatic porphyria Hepatology 33 2001 1217 1222
-
(2001)
Hepatology
, vol.33
, pp. 1217-1222
-
-
Schuurmans, M.M.1
Hoffmann, F.2
Lindberg, R.L.3
Meyer, U.A.4
-
43
-
-
3042698908
-
Biochemical characterization of porphobilinogen deaminase-deficient mice during phenobarbital induction of heme synthesis and the effect of enzyme replacement
-
A. Johansson, C. Moller, J. Fogh, and P. Harper Biochemical characterization of porphobilinogen deaminase-deficient mice during phenobarbital induction of heme synthesis and the effect of enzyme replacement Mol Med 9 2003 193 199
-
(2003)
Mol Med
, vol.9
, pp. 193-199
-
-
Johansson, A.1
Moller, C.2
Fogh, J.3
Harper, P.4
-
44
-
-
0036481425
-
A mouse model for South African (R59W) variegate porphyria: Construction and initial characterization
-
A.E. Medlock, P.N. Meissner, B.P. Davidson, A.V. Corrigall, and H.A. Dailey A mouse model for South African (R59W) variegate porphyria: construction and initial characterization Cell Mol Biol (Noisy-le-grand) 48 2002 71 78
-
(2002)
Cell Mol Biol (Noisy-le-grand)
, vol.48
, pp. 71-78
-
-
Medlock, A.E.1
Meissner, P.N.2
Davidson, B.P.3
Corrigall, A.V.4
Dailey, H.A.5
-
45
-
-
77249122441
-
Porphobilinogen deaminase over-expression in hepatocytes, but not in erythrocytes, prevents accumulation of toxic porphyrin precursors in a mouse model of acute intermittent porphyria
-
C. Unzu, A. Sampedro, I. Mauleón, L. Vanrell, J. Dubrot, and R.E. de Salamanca Porphobilinogen deaminase over-expression in hepatocytes, but not in erythrocytes, prevents accumulation of toxic porphyrin precursors in a mouse model of acute intermittent porphyria J Hepatol 52 2010 417 424
-
(2010)
J Hepatol
, vol.52
, pp. 417-424
-
-
Unzu, C.1
Sampedro, A.2
Mauleón, I.3
Vanrell, L.4
Dubrot, J.5
De Salamanca, R.E.6
-
46
-
-
33947716314
-
Safety, pharmacokinetics and pharmocodynamics of recombinant human porphobilinogen deaminase in healthy subjects and asymptomatic carriers of the acute intermittent porphyria gene who have increased porphyrin precursor excretion
-
E. Sardh, L. Rejkjaer, D.E. Andersson, and P. Harper Safety, pharmacokinetics and pharmocodynamics of recombinant human porphobilinogen deaminase in healthy subjects and asymptomatic carriers of the acute intermittent porphyria gene who have increased porphyrin precursor excretion Clin Pharmacokinet 46 2007 335 349
-
(2007)
Clin Pharmacokinet
, vol.46
, pp. 335-349
-
-
Sardh, E.1
Rejkjaer, L.2
Andersson, D.E.3
Harper, P.4
-
47
-
-
0042386222
-
Correction of the biochemical defect in porphobilinogen deaminase deficient cells by non-viral gene delivery
-
A. Johansson, C. Möller, and P. Harper Correction of the biochemical defect in porphobilinogen deaminase deficient cells by non-viral gene delivery Mol Cell Biochem 250 2003 65 71
-
(2003)
Mol Cell Biochem
, vol.250
, pp. 65-71
-
-
Johansson, A.1
Möller, C.2
Harper, P.3
-
48
-
-
68949212940
-
Effect of adeno-associated virus serotype and genomic structure on liver transduction and biodistribution in mice of both genders Hum
-
A. Pañeda, L. Vanrell, I. Mauleon, J.S. Crettaz, P. Berraondo, and E.J. Timmermans Effect of adeno-associated virus serotype and genomic structure on liver transduction and biodistribution in mice of both genders Hum Gene Ther 20 2009 908 917
-
(2009)
Gene Ther
, vol.20
, pp. 908-917
-
-
Pañeda, A.1
Vanrell, L.2
Mauleon, I.3
Crettaz, J.S.4
Berraondo, P.5
Timmermans, E.J.6
-
49
-
-
1542271496
-
Liver transplantation as a cure for acute intermittent porphyria
-
Z.F. Soonawalla, T. Orug, M.N. Badminton, G.H. Elder, J.M. Rhodes, and S.R. Bramhall 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
Elder, G.H.4
Rhodes, J.M.5
Bramhall, S.R.6
-
50
-
-
3242809783
-
Recovery from a variegate porphyria by a liver transplantation
-
N. Stojeba, C. Meyer, C. Jeanpierre, F. Perrot, C. Hirth, and T. Pottecher Recovery from a variegate porphyria by a liver transplantation Liver Transpl 10 2004 935 938
-
(2004)
Liver Transpl
, vol.10
, pp. 935-938
-
-
Stojeba, N.1
Meyer, C.2
Jeanpierre, C.3
Perrot, F.4
Hirth, C.5
Pottecher, T.6
-
51
-
-
77951954781
-
Combined liver and kidney transplantation in acute intermittent porphyria
-
S. Wahlin, P. Harper, E. Sardh, C. Andersson, D.E. Andersson, and B.G. Ericzon Combined liver and kidney transplantation in acute intermittent porphyria Transpl Int 23 2010 e18 e21
-
(2010)
Transpl Int
, vol.23
-
-
Wahlin, S.1
Harper, P.2
Sardh, E.3
Andersson, C.4
Andersson, D.E.5
Ericzon, B.G.6
|