-
1
-
-
0036279280
-
Management of acute and cutaneous porphyrias
-
Badminton MB, Elder GH. Management of acute and cutaneous porphyrias. Int J Clin Pract. 2002;56:272.
-
(2002)
Int J Clin Pract
, vol.56
, pp. 272
-
-
Badminton, M.B.1
Elder, G.H.2
-
2
-
-
0034035575
-
Could attacks of abdominal pain in cases of acute intermittent porphyria be due to intestinal angina?
-
Lithner F. Could attacks of abdominal pain in cases of acute intermittent porphyria be due to intestinal angina? J Intern Med. 2000;247:407-409.
-
(2000)
J Intern Med
, vol.247
, pp. 407-409
-
-
Lithner, F.1
-
3
-
-
2942527431
-
Pro-oxidant and antioxidant factors in acute intermittent porphyria: Family studies
-
Rocchi E, Ventura P, Ronzoni A, et al. Pro-oxidant and antioxidant factors in acute intermittent porphyria: family studies. J Inherit Metab Dis. 2004;27(2):251-266.
-
(2004)
J Inherit Metab Dis
, vol.27
, Issue.2
, pp. 251-266
-
-
Rocchi, E.1
Ventura, P.2
Ronzoni, A.3
-
4
-
-
0042343896
-
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, 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. 2003;254(2):176.
-
(2003)
J Intern Med
, vol.254
, Issue.2
, pp. 176
-
-
Andersson, C.1
Innala, E.2
Backstrom, T.3
-
5
-
-
0036840651
-
Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families
-
Kauppinen T, Fraunberg M. Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families. Clin Chem. 2002;48:1891-1900.
-
(2002)
Clin Chem
, vol.48
, pp. 1891-1900
-
-
Kauppinen, T.1
Fraunberg, M.2
-
6
-
-
14844293174
-
ED presentation of acute prophyrias
-
Liu Y, Lien W, Fang C, Lai T, Chen W, Wang H. ED presentation of acute prophyrias. Am J Emerg Med. 2005;23:164-167.
-
(2005)
Am J Emerg Med
, vol.23
, pp. 164-167
-
-
Liu, Y.1
Lien, W.2
Fang, C.3
Lai, T.4
Chen, W.5
Wang, H.6
-
7
-
-
0025888932
-
Identification of the most common mutation within porphobiliogen deaminase gene in Swedish patients with acute intermittent porphyria
-
Lee J, Anvret M. Identification of the most common mutation within porphobiliogen deaminase gene in Swedish patients with acute intermittent porphyria. Proc Natl Acad Sci. 1991;88:10912-10915.
-
(1991)
Proc Natl Acad Sci
, vol.88
, pp. 10912-10915
-
-
Lee, J.1
Anvret, M.2
-
8
-
-
0031407991
-
Detection of a R173W mutation in the porphobilinogen diaminase gene in the Nova Scotian "foreign Protestant" population with acute intermittent porphyria: A founder effect
-
Greene-Davies S, Neumann P, Mann O, et al. Detection of a R173W mutation in the porphobilinogen diaminase gene in the Nova Scotian "foreign Protestant" population with acute intermittent porphyria: a founder effect. Clin Biochem. 1997;30:607-612.
-
(1997)
Clin Biochem
, vol.30
, pp. 607-612
-
-
Greene-Davies, S.1
Neumann, P.2
Mann, O.3
-
9
-
-
0032881791
-
Identification and characterization of the hydroxymethylbilane synthase mutations causing acute intermittent porphyria: Evidence for an ancestral founder of the common G111R mutation
-
DeSirvi A, Rossetti M, Parera V, et al. Identification and characterization of the hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation. Am J Med Genet. 1999;86:366-375.
-
(1999)
Am J Med Genet
, vol.86
, pp. 366-375
-
-
DeSirvi, A.1
Rossetti, M.2
Parera, V.3
-
10
-
-
6444242831
-
Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria
-
Guillen-Navarro E, Carbonell P, Glover G, Sanchex-Solis M, Fernandez-Barreiro A. Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria. Ann Hum Genet. 2004;68:509-514.
-
(2004)
Ann Hum Genet
, vol.68
, pp. 509-514
-
-
Guillen-Navarro, E.1
Carbonell, P.2
Glover, G.3
Sanchex-Solis, M.4
Fernandez-Barreiro, A.5
-
11
-
-
0032971402
-
Insertion of ALU element responsible for acute intermittent porphyria
-
Mustajoki S, Ahola H, Mustajoki P, Kauppinen R. Insertion of ALU element responsible for acute intermittent porphyria. Hum Mutat. 1999;13:431-438.
-
(1999)
Hum Mutat
, vol.13
, pp. 431-438
-
-
Mustajoki, S.1
Ahola, H.2
Mustajoki, P.3
Kauppinen, R.4
-
12
-
-
0035434324
-
Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among Swiss patients
-
Schuurmans M, Schneider-Yin X, Fugenacht U, et al. Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among Swiss patients. Mol Med. 2001;7(8):535-542.
-
(2001)
Mol Med
, vol.7
, Issue.8
, pp. 535-542
-
-
Schuurmans, M.1
Schneider-Yin, X.2
Fugenacht, U.3
-
13
-
-
0033776409
-
Renal symptomatology in patients with acute intermittent porphyria: A population-based study
-
Andersson C, Wikeberg A, Stegmeyer B, Lithner F. Renal symptomatology in patients with acute intermittent porphyria: a population-based study. J Intern Med. 2000;248:319-325.
-
(2000)
J Intern Med
, vol.248
, pp. 319-325
-
-
Andersson, C.1
Wikeberg, A.2
Stegmeyer, B.3
Lithner, F.4
-
14
-
-
0034936354
-
ABC drug transporters: Hereditary polymorphisms and pharmacological impact in MDR1, MRP1 and MRP2
-
Kerb R, Hoffmeyer S, Brinkmann U. ABC drug transporters: hereditary polymorphisms and pharmacological impact in MDR1, MRP1 and MRP2. Pharmacogenomics. 2001;2:51-64.
-
(2001)
Pharmacogenomics
, vol.2
, pp. 51-64
-
-
Kerb, R.1
Hoffmeyer, S.2
Brinkmann, U.3
-
15
-
-
0033981851
-
Molecular aspects of the inherited porphyrias
-
Sassa S, Kappas A. Molecular aspects of the inherited porphyrias. J Intern Med. 2000;247(2):169-178.
-
(2000)
J Intern Med
, vol.247
, Issue.2
, pp. 169-178
-
-
Sassa, S.1
Kappas, A.2
-
16
-
-
0034679250
-
Diagnosis and management of porphyria
-
Thadani H, Dacon A, Peters T. Diagnosis and management of porphyria. Br Med J. 2000;320:1647-1651.
-
(2000)
Br Med J
, vol.320
, pp. 1647-1651
-
-
Thadani, H.1
Dacon, A.2
Peters, T.3
-
17
-
-
0031056654
-
Cimetidine in the treatment of acute intermittent porphyria
-
Rogers PD. Cimetidine in the treatment of acute intermittent porphyria. Ann Pharmacother. 1997;31(3):365-367.
-
(1997)
Ann Pharmacother
, vol.31
, Issue.3
, pp. 365-367
-
-
Rogers, P.D.1
-
18
-
-
0034098286
-
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. 2000;32:933-939.
-
(2000)
J Hepatol
, vol.32
, pp. 933-939
-
-
Andant, C.1
Puy, H.2
Bogard, C.3
|