-
1
-
-
0000718795
-
The porphyrias
-
C.R. Scriver, A.L. Beaudet, W.S. Sly, & D. 8th ed. Valle. New York: McGraw-Hill
-
Anderson K.E., Sassa S., Bishop D.F., Desnick R.J. The porphyrias. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. 8th ed. The metabolic basis of inherited disease. vol. 1:2001;2991-3062 McGraw-Hill, New York.
-
(2001)
The metabolic basis of inherited disease
, vol.1
, pp. 2991-3062
-
-
Anderson, K.E.1
Sassa, S.2
Bishop, D.F.3
Desnick, R.J.4
-
2
-
-
0032032970
-
Evolution of porphyrins
-
Mauzerall D.C. Evolution of porphyrins. Clin. Dermatol. 16:1998;195-201.
-
(1998)
Clin. Dermatol.
, vol.16
, pp. 195-201
-
-
Mauzerall, D.C.1
-
3
-
-
0028890618
-
Molecular regulation of heme biosynthesis in higher vertebrates
-
May B.K., Dogra S.C., Sadlon T.J., Bhasker C.R., Cox T.C., Bottomley S.S. Molecular regulation of heme biosynthesis in higher vertebrates. Prog. Nucleic Acid Res. Mol. Biol. 51:1995;1-51.
-
(1995)
Prog. Nucleic Acid Res. Mol. Biol.
, vol.51
, pp. 1-51
-
-
May, B.K.1
Dogra, S.C.2
Sadlon, T.J.3
Bhasker, C.R.4
Cox, T.C.5
Bottomley, S.S.6
-
4
-
-
0033511832
-
Cell biology of heme
-
Ponka P. Cell biology of heme. Am. J. Med. Sci. 318:1999;241-256.
-
(1999)
Am. J. Med. Sci.
, vol.318
, pp. 241-256
-
-
Ponka, P.1
-
5
-
-
0032957731
-
Studies on coproporphyrin isomers in urine ans feces in the porphyrias
-
Kuhnel A., Gross U., Jacob K., Doss M.O. Studies on coproporphyrin isomers in urine ans feces in the porphyrias. Clin. Chim. Acta. 282:1999;45-58.
-
(1999)
Clin. Chim. Acta
, vol.282
, pp. 45-58
-
-
Kuhnel, A.1
Gross, U.2
Jacob, K.3
Doss, M.O.4
-
7
-
-
0022576716
-
Metabolic abnormalities in the porphyrias
-
J.M. Mascaro. Orlando, FL: Grune & Stratton
-
Elder G.H. Metabolic abnormalities in the porphyrias. Mascaro J.M. Seminars in dermatology. 1986;88-98 Grune & Stratton, Orlando, FL.
-
(1986)
Seminars in dermatology
, pp. 88-98
-
-
Elder, G.H.1
-
8
-
-
0033981851
-
Molecular aspects of the inherited porphyrias
-
Sassa S., Kappas A. Molecular aspects of the inherited porphyrias. J. Intern. Med. 247:2000;169-178.
-
(2000)
J. Intern. Med.
, vol.247
, pp. 169-178
-
-
Sassa, S.1
Kappas, A.2
-
9
-
-
0020137405
-
Neurologic manifestations of acute porphyria
-
R. Schmid. New York: Thieme-Stratton
-
Bonkowsky H.L., Schady W. Neurologic manifestations of acute porphyria. Schmid R. Seminars in liver disease. 1982;108-124 Thieme-Stratton, New York.
-
(1982)
Seminars in liver disease
, pp. 108-124
-
-
Bonkowsky, H.L.1
Schady, W.2
-
10
-
-
0022358676
-
Autonomic neuropathy in acute intermittent porphyria
-
Yeung Laiwh A.C., Macphee G., Boyle P., Moore M.R., Goldberg A. Autonomic neuropathy in acute intermittent porphyria. J. Neurol. Neurosurg. Psychiatry. 48:1987;1025-1030.
-
(1987)
J. Neurol. Neurosurg. Psychiatry
, vol.48
, pp. 1025-1030
-
-
Yeung Laiwh, A.C.1
Macphee, G.2
Boyle, P.3
Moore, M.R.4
Goldberg, A.5
-
11
-
-
0029796492
-
Assessment of autonomic nerve function in acute intermittent porphyria: A study based on spectral analysis of heart variability
-
Blom H., Andersson C., Olofsson B.O., Bjerle P., Wiklund U., Lithner F. Assessment of autonomic nerve function in acute intermittent porphyria: a study based on spectral analysis of heart variability. J. Int. Med. 240:1996;73-79.
-
(1996)
J. Int. Med.
, vol.240
, pp. 73-79
-
-
Blom, H.1
Andersson, C.2
Olofsson, B.O.3
Bjerle, P.4
Wiklund, U.5
Lithner, F.6
-
13
-
-
0011247287
-
Traitement des porphyries aiguës en crise par l'hème arginate
-
Nordmann Y., Puy H., Deybach J.C. Traitement des porphyries aiguës en crise par l'hème arginate. Med. Chir. Dig. 2:1995;51-53.
-
(1995)
Med. Chir. Dig.
, vol.2
, pp. 51-53
-
-
Nordmann, Y.1
Puy, H.2
Deybach, J.C.3
-
15
-
-
0030050002
-
Epidemiology and clinical characteristics of seizure in patients with acute intermittent porphyria
-
Bylesjö I., Forsgren L., Lithner F., Boman K. Epidemiology and clinical characteristics of seizure in patients with acute intermittent porphyria. Epilepsia. 37:1996;230-235.
-
(1996)
Epilepsia
, vol.37
, pp. 230-235
-
-
Bylesjö, I.1
Forsgren, L.2
Lithner, F.3
Boman, K.4
-
16
-
-
85045496766
-
Transient cortical blindness and bioccipital brain lesions in two patients with acute intermittent porphyria
-
Kupferschmidt H., Bont A., Schnorf H., Landis T., Walter E., Peter J.et al. Transient cortical blindness and bioccipital brain lesions in two patients with acute intermittent porphyria. Ann. Intern. Med. 125:1996;422-423.
-
(1996)
Ann. Intern. Med.
, vol.125
, pp. 422-423
-
-
Kupferschmidt, H.1
Bont, A.2
Schnorf, H.3
Landis, T.4
Walter, E.5
Peter, J.6
-
17
-
-
0035206890
-
MR imaging of acute intermittent porphyria mimicking reversible posterior leukoencephalopathy syndrome
-
Utz N., Kinkel B., Hedde J.P., Bewermeyer H. MR imaging of acute intermittent porphyria mimicking reversible posterior leukoencephalopathy syndrome. Neuroradiology. 43:2001;1059-1062.
-
(2001)
Neuroradiology
, vol.43
, pp. 1059-1062
-
-
Utz, N.1
Kinkel, B.2
Hedde, J.P.3
Bewermeyer, H.4
-
21
-
-
0034521694
-
Porphyrins, porphyrin metabolism and porphyrias: II. Diagnosis and monitoring in the acute porphyrias
-
Thunell S., Harper P., Brock A., Petersen N.E. Porphyrins, porphyrin metabolism and porphyrias: II. Diagnosis and monitoring in the acute porphyrias. Scand. J. Clin. Lab. Invest. 60:2000;541-560.
-
(2000)
Scand. J. Clin. Lab. Invest.
, vol.60
, pp. 541-560
-
-
Thunell, S.1
Harper, P.2
Brock, A.3
Petersen, N.E.4
-
22
-
-
0031889894
-
Hereditary coproporphyria
-
Martasek P. Hereditary coproporphyria. Semin. Liver Dis. 18:1998;25-32.
-
(1998)
Semin. Liver Dis.
, vol.18
, pp. 25-32
-
-
Martasek, P.1
-
23
-
-
0029132314
-
Variegate porphyria: Diagnostic value of fluorometric scanning of plasma porphyrins
-
Da Silva V., Simonin S., Deybach J.C., Puy H., 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
-
24
-
-
0031783271
-
5-Aminolevulinic acid dehydratase deficiency porphyria: A twenty-year clinical and biochemical follow-up
-
Gross U., Sassa S., Jacob K., Deybach J.C., Nordmann Y., Frank M.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
Deybach, J.C.4
Nordmann, Y.5
Frank, M.6
-
25
-
-
0027946035
-
The three-dimensional structures of mutants of porphobilinogen deaminase: Toward an understanding of the structural basis of acute intermittent porphyria
-
Brownlie P.D., Lambert R., Louie G.V., Jordan P.M., Blundell T.L., Warren M.J.et al. The three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria. Protein Sci. 3:1994;1644-1650.
-
(1994)
Protein Sci.
, vol.3
, pp. 1644-1650
-
-
Brownlie, P.D.1
Lambert, R.2
Louie, G.V.3
Jordan, P.M.4
Blundell, T.L.5
Warren, M.J.6
-
26
-
-
0028072963
-
Molecular basis of acute intermittent porphyria: Mutations and polymorphisms in the human hydroxymethylbilane synthase gene
-
Astrin K.H., Desnick R.J. Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene. Human Mutat. 4:1994;243-252.
-
(1994)
Human Mutat.
, vol.4
, pp. 243-252
-
-
Astrin, K.H.1
Desnick, R.J.2
-
27
-
-
0019488371
-
Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria
-
Mustajoki P. Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria. Ann. Intern. Med. 95:1981;162-166.
-
(1981)
Ann. Intern. Med.
, vol.95
, pp. 162-166
-
-
Mustajoki, P.1
-
28
-
-
0022967680
-
Acute intermittent porphyria in The Netherlands. Heterogeneity of the enzyme porphobilinogen deaminase
-
Wilson J.H., De Rooij F.W., Te Velde K. Acute intermittent porphyria in The Netherlands. Heterogeneity of the enzyme porphobilinogen deaminase. Neth. J. Med. 29:1986;393-399.
-
(1986)
Neth. J. Med.
, vol.29
, pp. 393-399
-
-
Wilson, J.H.1
De Rooij, F.W.2
Te Velde, K.3
-
29
-
-
0031767479
-
Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria
-
Puy H., Gross U., Deybach J.C., Robréau A.M., Frank M., Nordmann Y.et al. Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria. Hum. Genet. 103:1998;570-575.
-
(1998)
Hum. Genet.
, vol.103
, pp. 570-575
-
-
Puy, H.1
Gross, U.2
Deybach, J.C.3
Robréau, A.M.4
Frank, M.5
Nordmann, Y.6
-
30
-
-
0033772228
-
Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene
-
Whatley S.D., Roberts A.G., Llewellyn D.H., Bennett C.P., Garrett C., Elder G.H. Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene. Hum. Genet. 107:2000;243-248.
-
(2000)
Hum. Genet.
, vol.107
, pp. 243-248
-
-
Whatley, S.D.1
Roberts, A.G.2
Llewellyn, D.H.3
Bennett, C.P.4
Garrett, C.5
Elder, G.H.6
-
31
-
-
0030959246
-
Molecular epidemiology and diagnosis of porphobilinogen deaminase gene defects in acute intermittent porphyria
-
Puy H., Deybach J.C., Lamoril J., Robréau A.M., Da Silva V., Gouya L.et al. Molecular epidemiology and diagnosis of porphobilinogen 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
Robréau, A.M.4
Da Silva, V.5
Gouya, L.6
-
32
-
-
0028945782
-
Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene
-
Kauppinen R., Mustajoki S., Pihlaja H., Peltonen L., Mustajoki P. Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene. Hum. Mol. Genet. 4:1995;215-222.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 215-222
-
-
Kauppinen, R.1
Mustajoki, S.2
Pihlaja, H.3
Peltonen, L.4
Mustajoki, P.5
-
33
-
-
0025888932
-
Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria
-
Lee J., Anvret M. Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria. Proc. Natl. Acad. Sci. U. S. A. 88:1991;10912-10915.
-
(1991)
Proc. Natl. Acad. Sci. U. S. A.
, vol.88
, pp. 10912-10915
-
-
Lee, J.1
Anvret, M.2
-
34
-
-
0027155954
-
High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria
-
Gu X., de Rooij F., Lee J.S., Te Velde K., Deybach J.C., Nordmann Y.et al. High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria. Hum. Genet. 91:1993;128-130.
-
(1993)
Hum. Genet.
, vol.91
, pp. 128-130
-
-
Gu, X.1
De Rooij, F.2
Lee, J.S.3
Te Velde, K.4
Deybach, J.C.5
Nordmann, Y.6
-
35
-
-
0031407991
-
Detection of a R173W mutation in the porphobilinogen deaùinase gene in the Nova Scotian "foreign Protestant" population with acute intermittent porphyria: A founder effect
-
Greene-Davis S.T., Neumann P.E., Mann O.E., Moss M.A., Schreiber W.E., Welch J.P.et al. Detection of a R173W mutation in the porphobilinogen deaùinase gene in the Nova Scotian "foreign Protestant" population with acute intermittent porphyria: a founder effect. Clin. Biochem. 30:1997;607-612.
-
(1997)
Clin. Biochem.
, vol.30
, pp. 607-612
-
-
Greene-Davis, S.T.1
Neumann, P.E.2
Mann, O.E.3
Moss, M.A.4
Schreiber, W.E.5
Welch, J.P.6
-
36
-
-
0034009598
-
Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria
-
Schneider-Yin X., Bogard C., Rüfenacht U.B., Puy H., Nordmann Y., Minder E.I.et al. Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria. Hum. Hered. 50:2000;247-250.
-
(2000)
Hum. Hered.
, vol.50
, pp. 247-250
-
-
Schneider-Yin, X.1
Bogard, C.2
Rüfenacht, U.B.3
Puy, H.4
Nordmann, Y.5
Minder, E.I.6
-
37
-
-
0030904874
-
Hepatic porphyrias in children
-
Elder G.H. Hepatic porphyrias in children. J. Inherit. Metab. Dis. 20:1997;237-246.
-
(1997)
J. Inherit. Metab. Dis.
, vol.20
, pp. 237-246
-
-
Elder, G.H.1
-
38
-
-
0033560646
-
Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria
-
Lindberg R.L., Martini R., Baumgartner M., Erne B., Borg J., Zielasek J.et al. Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria. J. Clin. Invest. 103:1999;1127-1134.
-
(1999)
J. Clin. Invest.
, vol.103
, pp. 1127-1134
-
-
Lindberg, R.L.1
Martini, R.2
Baumgartner, M.3
Erne, B.4
Borg, J.5
Zielasek, J.6
-
39
-
-
0003644150
-
Human coproporphyrinogen oxidase. Biochemical characterization of recombinant normal and R231W mutated enzymes expressed in E. coli as soluble, catalytically active homodimers
-
Martasek P., Camadro J.M., Raman C.S., Lecomte M.C., Le Caer J.P., Demeler B.et al. Human coproporphyrinogen oxidase. Biochemical characterization of recombinant normal and R231W mutated enzymes expressed in E. coli as soluble, catalytically active homodimers. Cell. Mol. Biol. 43:1997;47-58.
-
(1997)
Cell. Mol. Biol.
, vol.43
, pp. 47-58
-
-
Martasek, P.1
Camadro, J.M.2
Raman, C.S.3
Lecomte, M.C.4
Le Caer, J.P.5
Demeler, B.6
-
40
-
-
0033741406
-
Hereditary coproporphyria in Germany: Clinical-biochemical studies in 53 patients
-
Kuhnel A., Gross U., 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
-
41
-
-
0028347291
-
Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms
-
Martasek P., Nordmann Y., 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
-
42
-
-
0021013429
-
Harderoporphyria: A variant hereditary coproporphyria
-
Nordmann Y., Grandchamp B., de Verneuil H., Phung L., Cartigny B., Fontaine G. Harderoporphyria: a variant hereditary coproporphyria. J. Clin. Invest. 72:1983;1139-1149.
-
(1983)
J. Clin. Invest.
, vol.72
, pp. 1139-1149
-
-
Nordmann, Y.1
Grandchamp, B.2
De Verneuil, H.3
Phung, L.4
Cartigny, B.5
Fontaine, G.6
-
43
-
-
0032519497
-
Neonatal hemolytic anemia due to inherited harderoporphyria: Clinical characteristics and molecular basis
-
Lamoril J., Puy H., Gouya L., Rosipal R., Da Silva V., Grandchamp B.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
Rosipal, R.4
Da Silva, V.5
Grandchamp, B.6
-
44
-
-
0035895105
-
Neonatal-onset hereditary coproporphyria with male pseudohermaphrodism
-
Takeuchi H., Kondo M., Daimon M., Susa S., Ueoka K., Uemura O.et al. Neonatal-onset hereditary coproporphyria with male pseudohermaphrodism. Blood. 98:2001;3871-3873.
-
(2001)
Blood
, vol.98
, pp. 3871-3873
-
-
Takeuchi, H.1
Kondo, M.2
Daimon, M.3
Susa, S.4
Ueoka, K.5
Uemura, O.6
-
45
-
-
0033873204
-
Cloning of a coproporphyrinogen oxidase promoter regulatory element binding protein
-
Takahashi S., Furuyama K., Kobayashi A., Taketani S., Harigae H., Yamamoto M.et al. Cloning of a coproporphyrinogen oxidase promoter regulatory element binding protein. Biochem. Biophys. Res. Commun. 273:2000;596-602.
-
(2000)
Biochem. Biophys. Res. Commun.
, vol.273
, pp. 596-602
-
-
Takahashi, S.1
Furuyama, K.2
Kobayashi, A.3
Taketani, S.4
Harigae, H.5
Yamamoto, M.6
-
46
-
-
0035016319
-
Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporohyria
-
Lamoril J., Puy H., Whatley S.D., Martin C., Woolf J.R., Da Silva V.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 harderoporohyria. 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
-
47
-
-
0030054041
-
Human protoporphyrinogen oxidase: Expression, purification, and characterisation of the cloned enzyme
-
Dailey T.A., Dailey H.A. Human protoporphyrinogen oxidase: expression, purification, and characterisation of the cloned enzyme. Protein Sci. 5:1996;98-105.
-
(1996)
Protein Sci.
, vol.5
, pp. 98-105
-
-
Dailey, T.A.1
Dailey, H.A.2
-
48
-
-
0033592905
-
Acylation stabilises a protease-resistant conformation of protoporphyrinogen oxidase, the molecular target of diphenyl ether-type herbicides
-
Arnould S., Takahashi M., Camadro J.M. Acylation stabilises a protease-resistant conformation of protoporphyrinogen oxidase, the molecular target of diphenyl ether-type herbicides. Proc. Natl. Acad. Sci. 96:1999;14825-14830.
-
(1999)
Proc. Natl. Acad. Sci.
, vol.96
, pp. 14825-14830
-
-
Arnould, S.1
Takahashi, M.2
Camadro, J.M.3
-
49
-
-
0032577574
-
Identification of an FAD superfamily containing protoporphyrinogen oxidases, monoamine oxidases, and phytoene desaturase. Expression and characterization of phytoene desaturase of Myxococcus xanthus
-
Dailey T.A., Dailey H.A. Identification of an FAD superfamily containing protoporphyrinogen oxidases, monoamine oxidases, and phytoene desaturase. Expression and characterization of phytoene desaturase of Myxococcus xanthus. J. Biol. Chem. 273:1998;13658-13662.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 13658-13662
-
-
Dailey, T.A.1
Dailey, H.A.2
-
50
-
-
0033361412
-
Variegate porphyria in western Europe: Identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity and absence of correlation between phenotype and class of mutation
-
Whatley S.D., Puy H., Morgan R.R., Robréau A.M., Roberts A.G., Nordmann Y.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 class 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
Robréau, A.M.4
Roberts, A.G.5
Nordmann, Y.6
-
51
-
-
0035014446
-
A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria
-
Frank J., Jugert F.K., Merk H.F., Kalka K., Goerz G., Anderson K.et al. A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria. J. Invest. Dermatol. 116:2001;821-823.
-
(2001)
J. Invest. Dermatol.
, vol.116
, pp. 821-823
-
-
Frank, J.1
Jugert, F.K.2
Merk, H.F.3
Kalka, K.4
Goerz, G.5
Anderson, K.6
-
52
-
-
0030140415
-
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., Ziman M., Corrigall A.V., Roberts A.G.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
Ziman, M.4
Corrigall, A.V.5
Roberts, A.G.6
-
53
-
-
0035346151
-
Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients
-
von und zu Fraunberg F., Tenhunen R., Kauppinen R. Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients. Mol. Med. 7:2001;320-328.
-
(2001)
Mol. Med.
, vol.7
, pp. 320-328
-
-
Von und zu Fraunberg, F.1
Tenhunen, R.2
Kauppinen, R.3
-
54
-
-
0035052281
-
Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect
-
Kauppinen R., Timonen K., Fraunberg M., Laitinen E., Ahola H., Tenhunen R.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
Fraunberg, M.3
Laitinen, E.4
Ahola, H.5
Tenhunen, R.6
-
55
-
-
7844239345
-
Molecular characterization of homozygous variegate porphyria
-
Roberts A.G., Puy H., Dailey T.A., Morgan R.R., Whatley S.D., Dailey H.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
Morgan, R.R.4
Whatley, S.D.5
Dailey, H.A.6
-
56
-
-
0035874502
-
Highly heterogeneous nature of delta-aminolevulinate dehydratase deficiencies in ALAD porphyria
-
Maruno M., Furuyama K., Akagi R., Horie Y., Meguro K., Garbaczewski L.et al. Highly heterogeneous nature of delta-aminolevulinate dehydratase deficiencies in ALAD porphyria. Blood. 97:2001;2972-2978.
-
(2001)
Blood
, vol.97
, pp. 2972-2978
-
-
Maruno, M.1
Furuyama, K.2
Akagi, R.3
Horie, Y.4
Meguro, K.5
Garbaczewski, L.6
-
57
-
-
0035823060
-
The X-ray structure of yeast 5-aminolevulinic acid dehydratase complexed with substrate and three inhibitors
-
Erskine P.T., Newbold R., Brindley A.A., Wood S.P., Shoolingin-Jordan P.M., Warren M.J.et al. The X-ray structure of yeast 5-aminolevulinic acid dehydratase complexed with substrate and three inhibitors. J. Mol. Biol. 312:2001;133-141.
-
(2001)
J. Mol. Biol.
, vol.312
, pp. 133-141
-
-
Erskine, P.T.1
Newbold, R.2
Brindley, A.A.3
Wood, S.P.4
Shoolingin-Jordan, P.M.5
Warren, M.J.6
-
58
-
-
0031941533
-
ALAD porphyria
-
P.D. Berk. New York: Thieme
-
Sassa S. ALAD porphyria. Berk P.D. Seminars in liver disease. 1998;95-101 Thieme, New York.
-
(1998)
Seminars in liver disease
, pp. 95-101
-
-
Sassa, S.1
-
59
-
-
0022343691
-
High prevalence of intermittent acute porphyria in a psychiatric patient population
-
Tishler P.V., Woodward B., O'Connor J., Holbrook D.A., Seidman L.J., Hallett M.et al. High prevalence of intermittent acute porphyria in a psychiatric patient population. Am. J. Psychiatr. 142:1985;1430-1436.
-
(1985)
Am. J. Psychiatr.
, vol.142
, pp. 1430-1436
-
-
Tishler, P.V.1
Woodward, B.2
O'Connor, J.3
Holbrook, D.A.4
Seidman, L.J.5
Hallett, M.6
-
60
-
-
0026682570
-
Frequency of low erythrocyte porphobilinogen deaminase activity in Finland
-
Mustajoki P., Kauppinen R., Lannfelt L., Lilius L., Koistinen J. Frequency of low erythrocyte porphobilinogen deaminase activity in Finland. J. Intern. Med. 231:1992;389-395.
-
(1992)
J. Intern. Med.
, vol.231
, pp. 389-395
-
-
Mustajoki, P.1
Kauppinen, R.2
Lannfelt, L.3
Lilius, L.4
Koistinen, J.5
-
61
-
-
0030799468
-
Acute intermittent porphyria: Prevalence of mutations in the PBG deaminase gene in blood donors in France
-
Nordmann Y., Puy H., Da Silva V., Simonin S., Robréau A.M., Bonaiti C.et al. Acute intermittent porphyria: prevalence of mutations in the PBG deaminase gene in blood donors in France. J. Intern. Med. 242:1997;213-217.
-
(1997)
J. Intern. Med.
, vol.242
, pp. 213-217
-
-
Nordmann, Y.1
Puy, H.2
Da Silva, V.3
Simonin, S.4
Robréau, A.M.5
Bonaiti, C.6
-
62
-
-
0026682570
-
Frequency of low erythrocyte porphobilinogen deaminase activity in Finland
-
Mustajoki P., Kauppinen R., Lannfelt L., Lilius L., Koistinen J. Frequency of low erythrocyte porphobilinogen deaminase activity in Finland. J. Int. Med. 231:1992;389-395.
-
(1992)
J. Int. Med.
, vol.231
, pp. 389-395
-
-
Mustajoki, P.1
Kauppinen, R.2
Lannfelt, L.3
Lilius, L.4
Koistinen, J.5
-
63
-
-
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. 153:1993;2004-2008.
-
(1993)
Arch. Intern. Med.
, vol.153
, pp. 2004-2008
-
-
Mustajoki, P.1
Nordmann, Y.2
-
65
-
-
0035406880
-
Treatment of acute porphyria
-
Elder G.H., Hift R.J. Treatment of acute porphyria. Hosp. Med. 62:2001;422-425.
-
(2001)
Hosp. Med.
, vol.62
, pp. 422-425
-
-
Elder, G.H.1
Hift, R.J.2
-
66
-
-
0027181052
-
Advances in understanding and treating "the little imitator", acute porphyria
-
Bonkovsky H.L. Advances in understanding and treating "the little imitator", acute porphyria. Gastroenterology. 105:1993;590-594.
-
(1993)
Gastroenterology
, vol.105
, pp. 590-594
-
-
Bonkovsky, H.L.1
-
67
-
-
0027194169
-
Tin protoporphyrin prolongs the biochemical remission produced by heme arginate in acute hepatic porphyria
-
Dover S.B., Moore M.R., Fitzsimmons E.J., Graham A., McColl K.E.L. Tin protoporphyrin prolongs the biochemical remission produced by heme arginate in acute hepatic porphyria. Gastroenterology. 105:1993;500-506.
-
(1993)
Gastroenterology
, vol.105
, pp. 500-506
-
-
Dover, S.B.1
Moore, M.R.2
Fitzsimmons, E.J.3
Graham, A.4
McColl, K.E.L.5
-
68
-
-
0025276896
-
A gonadotropin releasing hormone analogue prevents cyclical attacks of porphyria
-
Anderson K.E., Spitz I.M., Bardin C.W., Kappas A. A gonadotropin releasing hormone analogue prevents cyclical attacks of porphyria. Arch. Intern. Med. 150:1990;1469-1474.
-
(1990)
Arch. Intern. Med.
, vol.150
, pp. 1469-1474
-
-
Anderson, K.E.1
Spitz, I.M.2
Bardin, C.W.3
Kappas, A.4
-
69
-
-
0015261886
-
Frequency of occurrence of hepatocellular carcinoma in patients with porphyria cutanea tarda in long-term follow-up
-
Kordac V. Frequency of occurrence of hepatocellular carcinoma in patients with porphyria cutanea tarda in long-term follow-up. Neoplasma. 19:1972;135-139.
-
(1972)
Neoplasma
, vol.19
, pp. 135-139
-
-
Kordac, V.1
-
70
-
-
0021279039
-
Recovery from porphyria cutanea tarda with no specific therapy other than avoidance of hepatic toxins
-
Topi G.C., Amantea A., Griso D. Recovery from porphyria cutanea tarda with no specific therapy other than avoidance of hepatic toxins. Br. J. Dermatol. 111:1984;75-82.
-
(1984)
Br. J. Dermatol.
, vol.111
, pp. 75-82
-
-
Topi, G.C.1
Amantea, A.2
Griso, D.3
-
71
-
-
0034161367
-
Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda
-
Bulaj Z.J., Philips J.D., Ajioka R.S., Franklin M.R., Griffen L.M., Guinee D.J.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
Philips, J.D.2
Ajioka, R.S.3
Franklin, M.R.4
Griffen, L.M.5
Guinee, D.J.6
-
72
-
-
0022849549
-
Induction of porphyria in cultured chick-embryo hepatocytes by halogenated aromatic compounds
-
Sinclair P.R., Sinclair J.F., Bement W.J., Lambrecht R.W., Bonkovsky H.L. Induction of porphyria in cultured chick-embryo hepatocytes by halogenated aromatic compounds. IARC Sci. Publ. 77:1986;535-542.
-
(1986)
IARC Sci. Publ.
, vol.77
, pp. 535-542
-
-
Sinclair, P.R.1
Sinclair, J.F.2
Bement, W.J.3
Lambrecht, R.W.4
Bonkovsky, H.L.5
-
74
-
-
0031982781
-
High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda
-
Sampietro M., Piperno A., Lupica L., Arosio C., Vergani A., Corbetta N.et al. High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda. Hepatology. 27:1998;181-184.
-
(1998)
Hepatology
, vol.27
, pp. 181-184
-
-
Sampietro, M.1
Piperno, A.2
Lupica, L.3
Arosio, C.4
Vergani, A.5
Corbetta, N.6
-
75
-
-
0031016791
-
Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda
-
Roberts G.A., Whatley S.D., Morgan R.R., Worwood M., 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, G.A.1
Whatley, S.D.2
Morgan, R.R.3
Worwood, M.4
Elder, G.H.5
-
76
-
-
0036481586
-
Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT)
-
Lamoril J., Andant C., Gouya L., Malonova E., Grandchamp B., Martasek P.et al. Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT). Cell. Mol. Biol. 48:2002;33-41.
-
(2002)
Cell. Mol. Biol.
, vol.48
, pp. 33-41
-
-
Lamoril, J.1
Andant, C.2
Gouya, L.3
Malonova, E.4
Grandchamp, B.5
Martasek, P.6
-
77
-
-
0020523478
-
Synergism of iron and hexachlorobenzene inhibits hepatic uroporphyrinogen decarboxylase in inbred mice
-
Smith A.G., Francis J.E. Synergism of iron and hexachlorobenzene inhibits hepatic uroporphyrinogen decarboxylase in inbred mice. Biochem. J. 214:1983;909-913.
-
(1983)
Biochem. J.
, vol.214
, pp. 909-913
-
-
Smith, A.G.1
Francis, J.E.2
-
78
-
-
0033964561
-
Cyp1A2 is essential in murine uroporphyria caused by hexachlorobenzene and iron
-
Sinclair P.R., Gorman N., Walton H.S., Bement W.J., Dalton T.P., Sinclair J.F.et al. Cyp1A2 is essential in murine uroporphyria caused by hexachlorobenzene and iron. Toxicol. Appl. Pharmacol. 162:2000;60-67.
-
(2000)
Toxicol. Appl. Pharmacol.
, vol.162
, pp. 60-67
-
-
Sinclair, P.R.1
Gorman, N.2
Walton, H.S.3
Bement, W.J.4
Dalton, T.P.5
Sinclair, J.F.6
-
79
-
-
0034535094
-
Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda
-
Christiansen L., Bygum A., Jensen A., Thomsen K., Brandrup F., Horder M.et al. Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda. Hum. Genet. 107:2000;612-614.
-
(2000)
Hum. Genet.
, vol.107
, pp. 612-614
-
-
Christiansen, L.1
Bygum, A.2
Jensen, A.3
Thomsen, K.4
Brandrup, F.5
Horder, M.6
-
80
-
-
0032793401
-
Porphyria cutanea tarda and hepatitis C virus: A case-control study and meta-analysis of the literature
-
Chuang T.Y., Brashear R., Lewis C. Porphyria cutanea tarda and hepatitis C virus: a case-control study and meta-analysis of the literature. J. Am. Acad. Dermatol. 41:1999;31-36.
-
(1999)
J. Am. Acad. Dermatol.
, vol.41
, pp. 31-36
-
-
Chuang, T.Y.1
Brashear, R.2
Lewis, C.3
-
81
-
-
0031891521
-
Epidemiology of hepatitis C and G in sporadic and familial porphyria cutanea tarda
-
Lamoril J., Andant C., Bogard C., Puy H., Gouya L., Pawlotsky J.M.et al. Epidemiology of hepatitis C and G in sporadic and familial porphyria cutanea tarda. Hepatology. 27:1998;848-852.
-
(1998)
Hepatology
, vol.27
, pp. 848-852
-
-
Lamoril, J.1
Andant, C.2
Bogard, C.3
Puy, H.4
Gouya, L.5
Pawlotsky, J.M.6
-
82
-
-
84920238259
-
Immunoreactive uroporphyrinogen decarboxylase in the liver in porphyria cutanea tarda
-
Elder G.H., Urquhart A.J., De Salamanca R.E., Munoz J.J., Bonkovsky H.L. Immunoreactive uroporphyrinogen decarboxylase in the liver in porphyria cutanea tarda. Lancet. 2:1985;229-233.
-
(1985)
Lancet
, vol.2
, pp. 229-233
-
-
Elder, G.H.1
Urquhart, A.J.2
De Salamanca, R.E.3
Munoz, J.J.4
Bonkovsky, H.L.5
-
83
-
-
0029865411
-
Uroporphyrinogen decarboxylase: Complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria
-
Moran-Jimenez M.J., Ged C., Romana M., Enriquez De Salamanca R., Taieb A., Topi G.et al. Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria. Am. J. Hum. Genet. 58:1996;712-721.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 712-721
-
-
Moran-Jimenez, M.J.1
Ged, C.2
Romana, M.3
Enriquez De Salamanca, R.4
Taieb, A.5
Topi, G.6
-
84
-
-
0032079342
-
Crystal structure of human uroporphyrinogen decarboxylase
-
Whitby F.G., Phillips J.D., Kushner J.P., Hill C.P. Crystal structure of human uroporphyrinogen decarboxylase. EMBO J. 17:1998;2463-2471.
-
(1998)
EMBO J.
, vol.17
, pp. 2463-2471
-
-
Whitby, F.G.1
Phillips, J.D.2
Kushner, J.P.3
Hill, C.P.4
-
85
-
-
0032819024
-
Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT
-
Christiansen L., Ged C., Hombrados I., Brons-Poulsen J., Fontanellas A., de Verneuil H.et al. Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT. Hum. Mut. 14:1999;222-232.
-
(1999)
Hum. Mut.
, vol.14
, pp. 222-232
-
-
Christiansen, L.1
Ged, C.2
Hombrados, I.3
Brons-Poulsen, J.4
Fontanellas, A.5
De Verneuil, H.6
-
86
-
-
0036279280
-
Management of acute and cutaneous porphyrias
-
Badminton M.N., 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
-
87
-
-
0019506279
-
Hepatoerythropoietic porphyria: A new uroporphyrinogen decarboxylase defect or homozygous porphyria cutanea tarda?
-
Elder G.H., Smith S.G., Herrero C., Lecha M., Mascaro J.M., Muniesa A.M.et al. Hepatoerythropoietic porphyria: a new uroporphyrinogen decarboxylase defect or homozygous porphyria cutanea tarda? Lancet. 1:1981;916-919.
-
(1981)
Lancet
, vol.1
, pp. 916-919
-
-
Elder, G.H.1
Smith, S.G.2
Herrero, C.3
Lecha, M.4
Mascaro, J.M.5
Muniesa, A.M.6
-
88
-
-
0034266066
-
Mutations in familial porphyria cutanea tarda: Two novel and two previously described for hepatoerythropoietic porphyria
-
Mendez M., Rosseti M.V., De Servi A., del Carmen Batlle A.M., Parera V. Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria. Hum. Mut. 16:2000;269-270.
-
(2000)
Hum. Mut.
, vol.16
, pp. 269-270
-
-
Mendez, M.1
Rosseti, M.V.2
De Servi, A.3
Del Carmen Batlle, A.M.4
Parera, V.5
-
89
-
-
0023010318
-
Uroporphyrinogen decarboxylase structural mutant (Gly281Glu) in a case of porphyria
-
de Verneuil H., Grandchamp B., Beaumont C., Picat C., Nordmann Y. Uroporphyrinogen decarboxylase structural mutant (Gly281Glu) in a case of porphyria. Science. 234:1986;732-734.
-
(1986)
Science
, vol.234
, pp. 732-734
-
-
De Verneuil, H.1
Grandchamp, B.2
Beaumont, C.3
Picat, C.4
Nordmann, Y.5
-
90
-
-
0028900058
-
A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: Biochemical and genetic studies on Spanish patients
-
Roberts A.G., Elder G.H., De Salamanca R.E., Herrero C., Lecha M., Mascaro J.M. A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients. J. Invest. Dermatol. 104:1995;500-502.
-
(1995)
J. Invest. Dermatol.
, vol.104
, pp. 500-502
-
-
Roberts, A.G.1
Elder, G.H.2
De Salamanca, R.E.3
Herrero, C.4
Lecha, M.5
Mascaro, J.M.6
-
91
-
-
0036337671
-
How the phenotype of a dominant Mendelian disorder is modulated through the wild-type allele expression level
-
Gouya L., Puy H., Robreau A.M., Bourgeois M., Lamoril J., Da Silva V.et al. How the phenotype of a dominant Mendelian disorder is modulated through the wild-type allele expression level. Nat. Genet. 30:2002;27-28.
-
(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
-
92
-
-
0032899348
-
Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update
-
Rosipal R., Lamoril J., Puy H., Da Silva V., Gouya L., De Rooij F.W.et al. Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update. Human Mutat. 13:1999;44-53.
-
(1999)
Human Mutat.
, vol.13
, pp. 44-53
-
-
Rosipal, R.1
Lamoril, J.2
Puy, H.3
Da Silva, V.4
Gouya, L.5
De Rooij, F.W.6
|