-
1
-
-
0000718795
-
-
Scriver C, Beaudet A, Sly W, Valle D, editors. The metabolic and molecular bases of inherited disease. 8th edn. New York: McGraw-Hill
-
Anderson K, Sassa S, Bishop D, Desnick R. Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias. In: Scriver C, Beaudet A, Sly W, Valle D, editors. The metabolic and molecular bases of inherited disease. 8th edn. New York: McGraw-Hill 2001;2991-3080.
-
(2001)
Disorders of Heme Biosynthesis: X-linked Sideroblastic Anemia and the Porphyries
, pp. 2991-3080
-
-
Anderson, K.1
Sassa, S.2
Bishop, D.3
Desnick, R.4
-
3
-
-
0034523829
-
The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study
-
Andersson C, Floderus Y, Wikberg A, Lithner F. The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study. Scand J Clin Lab Invest. 2000;60:643-648
-
(2000)
Scand J Clin Lab Invest.
, vol.60
, pp. 643-648
-
-
Andersson, C.1
Floderus, Y.2
Wikberg, A.3
Lithner, F.4
-
4
-
-
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;48:1891-1900
-
(2002)
Clin Chem.
, vol.48
, pp. 1891-1900
-
-
Von Kauppinen, R.1
Zu Fraunberg, M.2
-
5
-
-
0026595202
-
Prognosis of acute porphyria: Occurrence of acute attacks, precipitating factors, and associated diseases
-
Kauppinen R, Mustajoki P. Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases. Medicine. 1992;71:1-13.
-
(1992)
Medicine
, vol.71
, pp. 1-13
-
-
Kauppinen, R.1
Mustajoki, P.2
-
6
-
-
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;254:176-183
-
(2003)
J Intern Med.
, vol.254
, pp. 176-183
-
-
Andersson, C.1
Innala, E.2
Backstrom, T.3
-
8
-
-
0001346327
-
The porphyrias as inborn errors of metabolism
-
Waldenström J. The porphyrias as inborn errors of metabolism. Am J Med. 1957;22:758-773
-
(1957)
Am J Med.
, vol.22
, pp. 758-773
-
-
Waldenström, J.1
-
9
-
-
0021052235
-
Early-onset chronic renal failure as a complication of acute intermittent porphyria
-
Laiwah AA, Mactier R, McColl KE, Moore MR, Goldberg A. Early-onset chronic renal failure as a complication of acute intermittent porphyria. Q J Med. 1983;52:92-98
-
(1983)
Q J Med.
, vol.52
, pp. 92-98
-
-
Laiwah, A.A.1
MacTier, R.2
McColl, K.E.3
Moore, M.R.4
Goldberg, A.5
-
10
-
-
0027956929
-
Hypertension and renal disease in patients with acute intermittent porphyria
-
Andersson C, Lithner F. Hypertension and renal disease in patients with acute intermittent porphyria. J Intern Med. 1994;236:169-175
-
(1994)
J Intern Med.
, vol.236
, pp. 169-175
-
-
Andersson, C.1
Lithner, F.2
-
12
-
-
0034098286
-
Hepatocellular carcinoma in patients with acute hepatic porphyria: Frequency of occurrence and related factors
-
Andant C, Puy H, Bogard C, Faivre J, Soule JC, Nordmann Y,Deybach JC. 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
Faivre, J.4
Soule, J.C.5
Nordmann, Y.6
Deybach, J.C.7
-
13
-
-
0029966898
-
The epidemiology of hepatocellular carcinoma in patients with acute intermittent porphyria
-
Andersson C, Bjersing L, Lithner F. The epidemiology of hepatocellular carcinoma in patients with acute intermittent porphyria. J Intern Med. 1996;240:195-201. (Pubitemid 26356041)
-
(1996)
Journal of Internal Medicine
, vol.240
, Issue.4
, pp. 195-201
-
-
Andersson, C.1
Bjersing, L.2
Lithner, F.3
-
14
-
-
0022578667
-
Porphyrias, porphyrins and hepatocellular cancer
-
Bengtsson NO, Hardell L. Porphyrias, porphyrins and hepatocellular cancer. Br J Cancer. 1986;54:115-117
-
(1986)
Br J Cancer.
, vol.54
, pp. 115-117
-
-
Bengtsson, N.O.1
Hardell, L.2
-
15
-
-
0025080737
-
Primary liver carcinoma in two sisters with acute intermittent porphyria [letter]
-
Gubler JG, Bargetzi MJ, Meyer UA. Primary liver carcinoma in two sisters with acute intermittent porphyria [letter]. Am J Med. 1990;89:540-541
-
(1990)
Am J Med.
, vol.89
, pp. 540-541
-
-
Gubler, J.G.1
Bargetzi, M.J.2
Meyer, U.A.3
-
16
-
-
0021223597
-
Hepatocellular carcinoma in patients with acute intermittent porphyria
-
Lithner F, Wetterberg L. Hepatocellular carcinoma in patients with acute intermittent porphyria. Acta Med Scand. 1984;215:271-274
-
(1984)
Acta Med Scand.
, vol.215
, pp. 271-274
-
-
Lithner, F.1
Wetterberg, L.2
-
17
-
-
78651057641
-
The occurrence and determination of delta-aminolevulinic acid and porpho-bilinogen in urine
-
Mauzerall D, Granick S. The occurrence and determination of delta-aminolevulinic acid and porpho-bilinogen in urine. J Biol Chem. 1956;219:435-446
-
(1956)
J Biol Chem.
, vol.219
, pp. 435-446
-
-
Mauzerall, D.1
Granick, S.2
-
18
-
-
0036821823
-
Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene
-
Floderus Y, Shoolingin-Jordan PM, Harper P. Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene. Clin Genet. 2002;62:288-297
-
(2002)
Clin Genet.
, vol.62
, pp. 288-297
-
-
Floderus, Y.1
Shoolingin-Jordan, P.M.2
Harper, P.3
-
19
-
-
0027483749
-
The 1993 guidelines for the management of mild hypertension: Memorandum from a WHO/ISH meeting
-
Zanchetti A, Chalmers JP, Arakawa K, Gyarfas I, Hamet P, Hansson L, Julius S, MacMahon S, Mancia G, Omae T, Reid J, Safar M. The 1993 guidelines for the management of mild hypertension: Memorandum from a WHO/ISH meeting. Blood Pressure. 1993;2:86-100. (Pubitemid 23283623)
-
(1993)
Blood Pressure
, vol.2
, Issue.2
, pp. 86-100
-
-
Zanchetti, A.1
Chalmers, J.P.2
Arakawa, K.3
Gyarfas, I.4
Hamet, P.5
Hansson, L.6
Julius, S.7
MacMahon, S.8
Mancia, G.9
Menard, J.10
Omae, T.11
Reid, J.12
Safar, M.13
-
20
-
-
0013578224
-
WHO study group. diabetes mellitus
-
Geneva: World Health Organization
-
WHO Study Group. Diabetes Mellitus. Technical Report Series 727. Geneva: World Health Organization, 1985:9-17.
-
(1985)
Technical Report Series 727
, pp. 9-17
-
-
-
21
-
-
0024389604
-
LHRH analogues for hormonal manipulation in acute intermittent porphyria
-
Anderson KE. LHRH analogues for hormonal manipulation in acute intermittent porphyria. Semin Hematol. 1989;26:10-15
-
(1989)
Semin Hematol.
, vol.26
, pp. 10-15
-
-
Anderson, K.E.1
-
22
-
-
12344251028
-
An analysis of 112 acute porphyric attacks in Cape Town South Africa: Evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity
-
Hift RJ, Meissner PN. An analysis of 112 acute porphyric attacks in Cape Town, South Africa: evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity. Medicine. 2005;84:48-60.
-
(2005)
Medicine.
, vol.84
, pp. 48-60
-
-
Hift, R.J.1
Meissner, P.N.2
-
23
-
-
0041419572
-
Acute intermittent porphyria in childhood: A population-based study
-
Hultdin J, Schmauch A, Wikberg A, Dahlquist G, Andersson C. Acute intermittent porphyria in childhood: a population-based study. Acta Paediatr. 2003;92:562-568
-
(2003)
Acta Paediatr.
, vol.92
, pp. 562-568
-
-
Hultdin, J.1
Schmauch, A.2
Wikberg, A.3
Dahlquist, G.4
Andersson, C.5
-
24
-
-
0022596122
-
Juvenile acute intermittent porphyria with hypercholesterolemia and epilepsy: A case report and review of the literature
-
Kaplan PW, Lewis DV. Juvenile acute intermittent porphyria with hypercholesterolemia and epilepsy: a case report and review of the literature. J Child Neurol. 1986;1:38-45.
-
(1986)
J Child Neurol.
, vol.1
, pp. 38-45
-
-
Kaplan, P.W.1
Lewis, D.V.2
-
25
-
-
0002010026
-
Studien über porphyrie
-
Waldenström J. Studien über Porphyrie. Acta Med Scand. 1937;92(Suppl. 82):1-254.
-
(1937)
Acta Med Scand.
, vol.92
, Issue.SUPPL. 82
, pp. 1-254
-
-
Waldenström, J.1
-
26
-
-
10344236261
-
Acute intermittent porphyria: A study of 50 cases
-
Goldberg A. Acute intermittent porphyria: a study of 50 cases. Q J Med. 1959;110:183-209.
-
(1959)
Q J Med.
, vol.110
, pp. 183-209
-
-
Goldberg, A.1
-
27
-
-
0013952641
-
Onset of manifestations of hepatic porphyria in relation to the infl uence of female sex hormones
-
Zimmerman T, McMillin J, Watson C. Onset of manifestations of hepatic porphyria in relation to the infl uence of female sex hormones. Arch Intern Med. 1966;118:229-240
-
(1966)
Arch Intern Med.
, vol.118
, pp. 229-240
-
-
Zimmerman, T.1
McMillin, J.2
Watson, C.3
-
28
-
-
0017184454
-
Hereditary hepatic porphy-rias in Finland
-
Mustajoki P, Koskelo P. Hereditary hepatic porphy-rias in Finland. Acta Med Scand. 1976;200:171-178
-
(1976)
Acta Med Scand.
, vol.200
, pp. 171-178
-
-
Mustajoki, P.1
Koskelo, P.2
-
29
-
-
0025971821
-
Smoking and recurrent attacks of acute intermittent porphyria
-
Lip GY, McColl KE, J, Goldberg A, Moore MR. Smoking and recurrent attacks of acute intermittent porphyria. Br Med J. 1991;302:507.
-
(1991)
Br Med J.
, vol.302
, pp. 507
-
-
Lip, G.Y.1
McColl Ke, J.2
Goldberg, A.3
Moore, M.R.4
-
30
-
-
0027235754
-
Early administration of heme arginate for acute porphyric attacks
-
Mustajoki P, NordmannY.Early administration of heme arginate for acute porphyric attacks. Arch Intern Med. 1993;153:2004-2008
-
(1993)
Arch Intern Med.
, vol.153
, pp. 2004-2008
-
-
Mustajoki, P.1
Nordmann, Y.2
-
31
-
-
0014703261
-
Acute intermittent porphyria. A clinical and biochemical study of 46 patients
-
Stein J, Tschudy D. Acute intermittent porphyria. A clinical and biochemical study of 46 patients. Medicine. 1970;49:1-16.
-
(1970)
Medicine
, vol.49
, pp. 1-16
-
-
Stein, J.1
Tschudy, D.2
-
32
-
-
0025275919
-
Antinuclear antibodies and the diagnosis of systemic lupus erythematosus in patients with acute intermittent porphyria
-
Allard SA, Charles PJ, Herrick AL, McColl KE, Scott JT. Antinuclear antibodies and the diagnosis of systemic lupus erythematosus in patients with acute intermittent porphyria. Ann Rheum Dis. 1990;49:246-248
-
(1990)
Ann Rheum Dis.
, vol.49
, pp. 246-248
-
-
Allard, S.A.1
Charles, P.J.2
Herrick, A.L.3
McColl, K.E.4
Scott, J.T.5
-
33
-
-
0024319037
-
Systemic lupus erythematosus and acute intermittent porphyria
-
Allard SA, Scott JT. Systemic lupus erythematosus and acute intermittent porphyria. Br J Rheumatol. 1989;28:254-256
-
(1989)
Br J Rheumatol.
, vol.28
, pp. 254-256
-
-
Allard, S.A.1
Scott, J.T.2
-
34
-
-
0020326889
-
Systemic lupus erythematosus and acute intermittent porphyria: Coincidence or association
-
Rosemarin JI, Nigro EJ, Levere RD, Mascarenhas BR. Systemic lupus erythematosus and acute intermittent porphyria: coincidence or association ? Arthritis Rheum. 1982;25:1134-1137
-
(1982)
Arthritis Rheum.
, vol.25
, pp. 1134-1137
-
-
Rosemarin, J.I.1
Nigro, E.J.2
Levere, R.D.3
Mascarenhas, B.R.4
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