-
1
-
-
0026682570
-
Frequency of low erythrocyte porphobilinogen deaminase activity in Finland
-
P. Mustajoki R. Kauppinen L. Lannfelt et al. 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
-
2
-
-
0036279280
-
Management of acute and cutaneous porphyrias
-
M.N. Badminton & G.H. Elder 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
-
4
-
-
0036843067
-
Human hereditary hepatic porphyrias
-
Y. Nordmann & H. Puy Human hereditary hepatic porphyrias Clin Chim Acta 325 2002 17-37
-
(2002)
Clin. Chim. Acta
, vol.325
, pp. 17-37
-
-
Nordmann, Y.1
Puy, H.2
-
5
-
-
0041419572
-
Acute intermittent porphyria in childhood: A population-based study
-
J. Hultdin A. Schmauch A. Wikberg et al. Acute intermittent porphyria in childhood: A population-based study Acta Paediatr 92 2003 562-568
-
(2003)
Acta Paediatr.
, vol.92
, pp. 562-568
-
-
Hultdin, J.1
Schmauch, A.2
Wikberg, A.3
-
6
-
-
10344236261
-
Acute intermittent porphyria. A study of 50 cases
-
A. Goldberg Acute intermittent porphyria. A study of 50 cases Quart J Med 28 1959 183-209
-
(1959)
Quart. J. Med.
, vol.28
, pp. 183-209
-
-
Goldberg, A.1
-
7
-
-
0014703261
-
Acute intermittent porphyria - A clinical and biochemical study of 46 patients
-
J.A. Stein & D.P. Tschudy Acute intermittent porphyria - a clinical and biochemical study of 46 patients Medicine (Baltimore) 49 1970 1-16
-
(1970)
Medicine (Baltimore)
, vol.49
, pp. 1-16
-
-
Stein, J.A.1
Tschudy, D.P.2
-
8
-
-
0014545842
-
The neuropathy of acute intermittent porphyria
-
A. Ridley The neuropathy of acute intermittent porphyria Quart J Med 38 1969 307-333
-
(1969)
Quart. J. Med.
, vol.38
, pp. 307-333
-
-
Ridley, A.1
-
9
-
-
0021052235
-
Early-onset chronic renal failure as a complication of acute intermittent porphyria
-
A.C. Yeung Laiwah R. Mactier K.E.L. McColl et al. Early-onset chronic renal failure as a complication of acute intermittent porphyria Quart J Med 205 1983 92-98
-
(1983)
Quart. J. Med.
, vol.205
, pp. 92-98
-
-
Yeung Laiwah, A.C.1
Mactier, R.2
McColl, K.E.L.3
-
10
-
-
0029097740
-
De-novo mutation and sporadic presentation of acute intermittent porphyria
-
S.D. Whatley A.G. Roberts & G.H. Elder De-novo mutation and sporadic presentation of acute intermittent porphyria Lancet 346 1995 1007-1008
-
(1995)
Lancet
, vol.346
, pp. 1007-1008
-
-
Whatley, S.D.1
Roberts, A.G.2
Elder, G.H.3
-
11
-
-
0019964911
-
Screening for latent acute intermittent porphyria: The value of measuring both leucocyte δ-aminolaevulinic acid synthase and erythrocyte uroporphyrinogen-1-synthase activities
-
K.E.L. McColl M.R. Moore G.G. Thompson & A. Goldberg Screening for latent acute intermittent porphyria: The value of measuring both leucocyte δ-aminolaevulinic acid synthase and erythrocyte uroporphyrinogen-1-synthase activities J Med Genet 19 1982 271-276
-
(1982)
J. Med. Genet.
, vol.19
, pp. 271-276
-
-
McColl, K.E.L.1
Moore, M.R.2
Thompson, G.G.3
Goldberg, A.4
-
12
-
-
0036840651
-
Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families
-
R. Kauppinen M. & von und zu Frauberg 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 Frauberg, M.2
-
13
-
-
0018398133
-
Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase
-
J.M. Lamon B.C. Frykholm & D.P. Tschudy Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase J Med Genet 16 1979 134-139
-
(1979)
J. Med. Genet.
, vol.16
, pp. 134-139
-
-
Lamon, J.M.1
Frykholm, B.C.2
Tschudy, D.P.3
-
14
-
-
0019488371
-
Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria
-
P. Mustajoki Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria Ann Int Med 95 1981 162-166
-
(1981)
Ann. Int. Med.
, vol.95
, pp. 162-166
-
-
Mustajoki, P.1
-
15
-
-
0030959246
-
Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria
-
H. Puy J.C. Deybach J. Lamoril 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
-
16
-
-
0028945782
-
Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene
-
R. Kauppinen S. Mutajoki H. Pihlaja et al. 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
Mutajoki, S.2
Pihlaja, H.3
-
17
-
-
0031600972
-
Acute intermittent porphyria
-
B. Grandchamp Acute intermittent porphyria Sem Liver Dis 18 1998 17-24
-
(1998)
Sem. Liver Dis.
, vol.18
, pp. 17-24
-
-
Grandchamp, B.1
-
18
-
-
0023046949
-
Molecular cloning and complete primary sequence of human porphobilinogen deaminase
-
N. Raich P.H. Romeo A. Dubart et al. Molecular cloning and complete primary sequence of human porphobilinogen deaminase Nucleic Acids Res 14 1986 5955-5968
-
(1986)
Nucleic Acids Res.
, vol.14
, pp. 5955-5968
-
-
Raich, N.1
Romeo, P.H.2
Dubart, A.3
-
19
-
-
0028113944
-
Acute intermittent porphyria: Identification and expression of exonic mutations in the hydroxymethylbilane synthase gene
-
C-H. Chen K.H. Astrin G. Lee et al. Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene J Clin Invest 94 1994 1927-1937
-
(1994)
J. Clin. Invest.
, vol.94
, pp. 1927-1937
-
-
Chen, C.-H.1
Astrin, K.H.2
Lee, G.3
-
21
-
-
0031767479
-
Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria
-
H. Puy U. Gross J.C. Deybach 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
-
22
-
-
0036821823
-
Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene
-
Y. Floderus P.M. Shoolingin-Jordan & P. Harper 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
-
23
-
-
19044373028
-
Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute imtermittent porphyria
-
A. Gregor X. Schneider-Yin U. Szlendak et al. Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute imtermittent porphyria Hum Mutat 19 2002 310-314
-
(2002)
Hum. Mutat.
, vol.19
, pp. 310-314
-
-
Gregor, A.1
Schneider-Yin, X.2
Szlendak, U.3
-
24
-
-
0023141499
-
Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene
-
B. Grandchamp H. de Verneuil C. Beaumont et al. Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene Eur J Biochem 162 1987 105-110
-
(1987)
Eur. J. Biochem.
, vol.162
, pp. 105-110
-
-
Grandchamp, B.1
de Verneuil, H.2
Beaumont, C.3
-
25
-
-
0027409758
-
Hydroxymethylbilane synthase: Complete genomic sequence and amplifiable polymorphisms in the human gene
-
H.-W. Yoo C.A. Warner C.-H. Chen & R.J. Desnick Hydroxymethylbilane synthase: Complete genomic sequence and amplifiable polymorphisms in the human gene Genomics 15 1993 21-29
-
(1993)
Genomics
, vol.15
, pp. 21-29
-
-
Yoo, H.-W.1
Warner, C.A.2
Chen, C.-H.3
Desnick, R.J.4
-
26
-
-
0029873549
-
Diagnosis and therapy of acute intermittent porphyria
-
S. Sassa Diagnosis and therapy of acute intermittent porphyria Blood Rev 10 1996 53-58
-
(1996)
Blood Rev.
, vol.10
, pp. 53-58
-
-
Sassa, S.1
-
29
-
-
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 & T. Backstrom Acute intermittent porphyria in women: Clinical expression, use, and experience of exogenous sex hormones. A population-based study in northern Sweden J Int Med 254 2003 176-183
-
(2003)
J. Int. Med.
, vol.254
, pp. 176-183
-
-
Andersson, C.1
Innala, E.2
Backstrom, T.3
-
30
-
-
0037349928
-
Acute intermittent porphyria assocated with ovarian stimulation. A case report
-
W.B. Seiden L.P. Kelly & R. Ali Acute intermittent porphyria assocated with ovarian stimulation. A case report J Reprod Med 48 2003 201-203
-
(2003)
J. Reprod. Med.
, vol.48
, pp. 201-203
-
-
Seiden, W.B.1
Kelly, L.P.2
Ali, R.3
-
31
-
-
0025291225
-
Developmental biology of heme oxygenase
-
P.A. Rodgers & D.K. Stevenson Developmental biology of heme oxygenase Clin Perinatol 17 1990 275-291
-
(1990)
Clin. Perinatol.
, vol.17
, pp. 275-291
-
-
Rodgers, P.A.1
Stevenson, D.K.2
-
32
-
-
0028555281
-
Nutrition management of acute intermittent porphyria
-
T.L. Robert L. Varella & M.M. Meguid Nutrition management of acute intermittent porphyria Nutrition 10 1994 551-555
-
(1994)
Nutrition
, vol.10
, pp. 551-555
-
-
Robert, T.L.1
Varella, L.2
Meguid, M.M.3
-
35
-
-
0019192534
-
Effect of δ-aminolaevulinic acid on GABA receptor binding in synaptic plasma membranes
-
M.J.W. Brennan R.C. Cantrill & S. Kramer Effect of δ-aminolaevulinic acid on GABA receptor binding in synaptic plasma membranes Int J Biochem 12 1980 833-835
-
(1980)
Int. J. Biochem.
, vol.12
, pp. 833-835
-
-
Brennan, M.J.W.1
Cantrill, R.C.2
Kramer, S.3
-
36
-
-
0030069657
-
Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria
-
R.L.P. Lindberg C. Porcher B. Grandchamp et al. Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria Nat Genet 12 1996 195-199
-
(1996)
Nat. Genet.
, vol.12
, pp. 195-199
-
-
Lindberg, R.L.P.1
Porcher, C.2
Grandchamp, B.3
-
37
-
-
0027965186
-
Safety of general anaesthesia and surgery in acute hepatic porphyria
-
S.B. Dover L. Plenderleith M.R. Moore & K.E.L. McColl Safety of general anaesthesia and surgery in acute hepatic porphyria Gut 35 1994 1112-1115
-
(1994)
Gut
, vol.35
, pp. 1112-1115
-
-
Dover, S.B.1
Plenderleith, L.2
Moore, M.R.3
McColl, K.E.L.4
-
38
-
-
0021220647
-
Prevention of attacks of acute intermittent porphyria with a long-acting agonist of luteinizing-hormone releasing hormone
-
K.E. Anderson I.M. Spitz S. Sassa et al. Prevention of attacks of acute intermittent porphyria with a long-acting agonist of luteinizing-hormone releasing hormone N Eng J Med 311 1984 643-645
-
(1984)
N. Eng. J. Med.
, vol.311
, pp. 643-645
-
-
Anderson, K.E.1
Spitz, I.M.2
Sassa, S.3
-
39
-
-
0025278014
-
LHRH analogue treatment for the prevention of premenstrual attacks of acute porphyria
-
A.L. Herrick K.E.L. McColl A.M. Wallace et al. LHRH analogue treatment for the prevention of premenstrual attacks of acute porphyria Q J Med 75 1990 355-363
-
(1990)
Q. J. Med.
, vol.75
, pp. 355-363
-
-
Herrick, A.L.1
McColl, K.E.L.2
Wallace, A.M.3
-
40
-
-
0029072558
-
Gabapentin treatment of seizures in acute intermittent porphyria
-
W.O. Tatum & S.B. Zachariah Gabapentin treatment of seizures in acute intermittent porphyria Neurology 45 1995 1216-1217
-
(1995)
Neurology
, vol.45
, pp. 1216-1217
-
-
Tatum, W.O.1
Zachariah, S.B.2
-
43
-
-
0025748654
-
Intravenous heme-albumin in acute intermittent porphyria: Evidence for repletion of hepatic hemoproteins and regulatory heme pools
-
H.L. Bonkovsky J.F. Healey A.N. Lourie & G.G. Gerron 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
-
44
-
-
0027235754
-
Early administration of heme arginate for acute porphyric attacks
-
P. Mustajoki & 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
-
45
-
-
0024340702
-
Controlled trial of haem arginate in acute hepatic porphyria
-
A.L. Herrick K.E.L. McColl M.R. Moore et al. Controlled trial of haem arginate in acute hepatic porphyria Lancet 1 1989 1295-1297
-
(1989)
Lancet
, vol.1
, pp. 1295-1297
-
-
Herrick, A.L.1
McColl, K.E.L.2
Moore, M.R.3
-
46
-
-
0027194169
-
Tin protoporphyrin prolongs the biochemical remission produced by heme arginate in acute hepatic porphyria
-
S.B. Dover M.R. Moore E.J. Fitzsimmons et al. Tin protoporphyrin prolongs the biochemical remission produced by heme arginate in acute hepatic porphyria Gastroenterol 105 1993 500-506
-
(1993)
Gastroenterol.
, vol.105
, pp. 500-506
-
-
Dover, S.B.1
Moore, M.R.2
Fitzsimmons, E.J.3
-
47
-
-
0042386222
-
Correction of the biochemical defect in porphobilinogen deaminase deficient cells by non-viral gene delivery
-
A. Johannsson C. Moller & 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
-
-
Johannsson, A.1
Moller, C.2
Harper, P.3
-
48
-
-
1542271496
-
Liver transplantation as a cure for acute intermittent porphyria
-
Z.F. Soonawalla T. Orug M.N. Badminston 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
Badminston, M.N.3
|