-
1
-
-
0000016355
-
The porphyrias
-
Scriver CR, Beaudet A, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Kappas A, Sassa S, Galbraith RA, Nordmann Y. The porphyrias. In: Scriver CR, Beaudet A, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Diseases, 7th Ed. New York: McGraw-Hill, 1995:2116-27.
-
(1995)
The Metabolic and Molecular Bases of Inherited Diseases, 7th Ed.
, pp. 2116-2127
-
-
Kappas, A.1
Sassa, S.2
Galbraith, R.A.3
Nordmann, Y.4
-
2
-
-
0023046949
-
Molecular cloning and complete primary sequence of human erythrocyte PBG deaminase
-
Raich N, Romeo PH, Dubart A, Beaupain D, Cohen-Solal M, Goossens M. Molecular cloning and complete primary sequence of human erythrocyte PBG deaminase. Nucleic Acids Res 1986;14:5955-68.
-
(1986)
Nucleic Acids Res
, vol.14
-
-
Raich, N.1
Romeo, P.H.2
Dubart, A.3
Beaupain, D.4
Cohen-Solal, M.5
Goossens, M.6
-
3
-
-
0023141499
-
Tissue-specific expression of porphobilinogen deaminase: Two isoenzymes from a single gene
-
Grandchamp B, de Verneuil H, Beaumont C, Chretien S, Walter O, Nordmann Y. Tissue-specific expression of porphobilinogen deaminase: Two isoenzymes from a single gene. Eur J Biochem 1987;162:105-10.
-
(1987)
Eur J Biochem
, vol.162
, pp. 105-110
-
-
Grandchamp, B.1
De Verneuil, H.2
Beaumont, C.3
Chretien, S.4
Walter, O.5
Nordmann, Y.6
-
4
-
-
0023713201
-
Alternative transcription and splicing of the human porphobilinogen deaminase result either in tissue-specific or in house-keeping expression
-
Chretien S, Dubart A, Beaupain D, Raich N, Grandchamp B, Rosa J, et al. Alternative transcription and splicing of the human porphobilinogen deaminase result either in tissue-specific or in house-keeping expression. Proc Natl Acad Sci U S A 1988;85:6-9.
-
(1988)
Proc Natl Acad Sci U S A
, vol.85
, pp. 6-9
-
-
Chretien, S.1
Dubart, A.2
Beaupain, D.3
Raich, N.4
Grandchamp, B.5
Rosa, J.6
-
5
-
-
0027409758
-
Hydroxymethylbilane synthase: Complete genomic sequence and amplifiable polymorphisms in the human gene
-
Yoo HW, Warner CA, Chen CH, Desnick RJ. Hydroxymethylbilane synthase: Complete genomic sequence and amplifiable polymorphisms in the human gene. Genomics 1993;15:21-9.
-
(1993)
Genomics
, vol.15
, pp. 21-29
-
-
Yoo, H.W.1
Warner, C.A.2
Chen, C.H.3
Desnick, R.J.4
-
6
-
-
0025895524
-
Assignment of human porphobilinogen deaminase to 11q24.1-q24.2 by in situ hybridization and gene dosage studies
-
Namba H, Narahara K, Tsuji K, Yokoyama Y, Seino Y. Assignment of human porphobilinogen deaminase to 11q24.1-q24.2 by in situ hybridization and gene dosage studies. Cytogenet Cell Genet 1991;57:105-8.
-
(1991)
Cytogenet Cell Genet
, vol.57
, pp. 105-108
-
-
Namba, H.1
Narahara, K.2
Tsuji, K.3
Yokoyama, Y.4
Seino, Y.5
-
7
-
-
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 (Baltimore) 1992;71:1-13.
-
(1992)
Medicine (Baltimore)
, vol.71
, pp. 1-13
-
-
Kauppinen, R.1
Mustajoki, P.2
-
8
-
-
0026559437
-
Homozygous acute intermittent porphyria: Compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene
-
Llewellyn DH, Smyth SJ, Elder GH, Hutchesson AC, Ratterbury JM, Smith MF. Homozygous acute intermittent porphyria: Compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene. Hum Genet 1992;89:97-8.
-
(1992)
Hum Genet
, vol.89
, pp. 97-98
-
-
Llewellyn, D.H.1
Smyth, S.J.2
Elder, G.H.3
Hutchesson, A.C.4
Ratterbury, J.M.5
Smith, M.F.6
-
9
-
-
0024998481
-
A retrospective study of a patient with homozygous form of acute intermittent porphyria
-
Beukeveld GJ, Wolthers BG, Nordmann Y, Deybach JC, Grandchamp B, Wadman SK. A retrospective study of a patient with homozygous form of acute intermittent porphyria. J Inherit Metab Dis 1990;13:673-83.
-
(1990)
J Inherit Metab Dis
, vol.13
, pp. 673-683
-
-
Beukeveld, G.J.1
Wolthers, B.G.2
Nordmann, Y.3
Deybach, J.C.4
Grandchamp, B.5
Wadman, S.K.6
-
10
-
-
0015509185
-
Intermittent acute porphyria - Demonstration of a genetic defect in porphobilinogen metabolism
-
Meyer UA, Strand LJ, Doss M, Rees AC, Marver HS. Intermittent acute porphyria - Demonstration of a genetic defect in porphobilinogen metabolism. N Engl J Med 1972;286:1277-82.
-
(1972)
N Engl J Med
, vol.286
, pp. 1277-1282
-
-
Meyer, U.A.1
Strand, L.J.2
Doss, M.3
Rees, A.C.4
Marver, H.S.5
-
11
-
-
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 1981;95:162-6.
-
(1981)
Ann Intern Med
, vol.95
, pp. 162-166
-
-
Mustajoki, P.1
-
13
-
-
0017184454
-
Hereditary hepatic porphyrias in Finland
-
Mustajoki P, Koskelo P. Hereditary hepatic porphyrias in Finland. Acta Med Scand 1976;200:171-8.
-
(1976)
Acta Med Scand
, vol.200
, pp. 171-178
-
-
Mustajoki, P.1
Koskelo, P.2
-
14
-
-
0015415167
-
Decreased red cell uroporphyrinogen I synthetase activity in intermittent acute porphyria
-
Strand LJ, Meyer UA, Felsher BF, Redeker AG, Marver HS. Decreased red cell uroporphyrinogen I synthetase activity in intermittent acute porphyria. J Clin Invest 1972;51:2530-6.
-
(1972)
J Clin Invest
, vol.51
, pp. 2530-2536
-
-
Strand, L.J.1
Meyer, U.A.2
Felsher, B.F.3
Redeker, A.G.4
Marver, H.S.5
-
15
-
-
0022699985
-
Analysis of urine and faecal porphyrins by HPLC coupled to an advanced automated sample processor
-
Li F, Lim CK, Peters TJ. Analysis of urine and faecal porphyrins by HPLC coupled to an advanced automated sample processor. Biomed Chromatogr 1986;1:93-4.
-
(1986)
Biomed Chromatogr
, vol.1
, pp. 93-94
-
-
Li, F.1
Lim, C.K.2
Peters, T.J.3
-
16
-
-
0021358220
-
Urine and faecal porphyrin profiles by reversed-phase high-performance liquid chromatography in the porphyrias
-
Lim CK, Peters TJ. Urine and faecal porphyrin profiles by reversed-phase high-performance liquid chromatography in the porphyrias. Clin Chim Acta 1984;139:55-63.
-
(1984)
Clin Chim Acta
, vol.139
, pp. 55-63
-
-
Lim, C.K.1
Peters, T.J.2
-
17
-
-
0018855883
-
A plasma porphyrin fluorescence marker for variegate porphyria
-
Poh-Fitzpatrick MB. A plasma porphyrin fluorescence marker for variegate porphyria. Arch Dermatol 1980;116:543-7.
-
(1980)
Arch Dermatol
, vol.116
, pp. 543-547
-
-
Poh-Fitzpatrick, M.B.1
-
18
-
-
0023461268
-
Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction
-
Mullis KB, Faloona F. Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction. Methods Enzymol 1987;155:335-50.
-
(1987)
Methods Enzymol
, vol.155
, pp. 335-350
-
-
Mullis, K.B.1
Faloona, F.2
-
19
-
-
0031798920
-
Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent polphyria
-
Mustajoki S, Pihlaja H, Ahola H, Petersen NE, Mustajoki P, Kauppinen R. Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent polphyria. Hum Genet 1998;102:541-8.
-
(1998)
Hum Genet
, vol.102
, pp. 541-548
-
-
Mustajoki, S.1
Pihlaja, H.2
Ahola, H.3
Petersen, N.E.4
Mustajoki, P.5
Kauppinen, R.6
-
21
-
-
0016809641
-
Acute intermittent porphyria: Clinical and selected research aspects
-
Tschudy DP, Valsamis M, Magnussen CR. Acute intermittent porphyria: Clinical and selected research aspects. Ann Intern Med 1975;83:851-64.
-
(1975)
Ann Intern Med
, vol.83
, pp. 851-864
-
-
Tschudy, D.P.1
Valsamis, M.2
Magnussen, C.R.3
-
24
-
-
0030799468
-
Acute intermittent porphyria: Prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France
-
Nordmann Y, Puy H, da Silva V, Simonin S, Robreau AM, Bonaiti C, et al. Acute intermittent porphyria: Prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France. J Intern Med 1997;242:213-7.
-
(1997)
J Intern Med
, vol.242
, pp. 213-217
-
-
Nordmann, Y.1
Puy, H.2
Da Silva, V.3
Simonin, S.4
Robreau, A.M.5
Bonaiti, C.6
-
25
-
-
0019410369
-
The diagnosis of acute intermittent porphyria. Usefulness and limitations of the erythrocyte uroporphyrinogen I synthase assay
-
Bottomley SS, Bonkowsky HL, Kreimer-Birnbaum M. The diagnosis of acute intermittent porphyria. Usefulness and limitations of the erythrocyte uroporphyrinogen I synthase assay. Am J Clin Pathol 1981;76:133-9.
-
(1981)
Am J Clin Pathol
, vol.76
, pp. 133-139
-
-
Bottomley, S.S.1
Bonkowsky, H.L.2
Kreimer-Birnbaum, M.3
-
26
-
-
0018398133
-
Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase
-
Lamon JM, Frykholm BC, Tschudy DP. Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase. J Med Genet 1979;16:134-9.
-
(1979)
J Med Genet
, vol.16
, pp. 134-139
-
-
Lamon, J.M.1
Frykholm, B.C.2
Tschudy, D.P.3
-
27
-
-
0019156570
-
Variegate porphyria. Twelve years' experience in Finland
-
Mustajoki P. Variegate porphyria. Twelve years' experience in Finland. QJM 1980;49:191-203.
-
(1980)
QJM
, vol.49
, pp. 191-203
-
-
Mustajoki, P.1
-
28
-
-
0034524541
-
The diagnosis of variegate porphyria - Hard to get?
-
Fraunberg M, Kauppinen R. The diagnosis of variegate porphyria - Hard to get? Scand J Clin Lab Invest 2000;60:605-10.
-
(2000)
Scand J Clin Lab Invest
, vol.60
, pp. 605-610
-
-
Fraunberg, M.1
Kauppinen, R.2
-
29
-
-
0017707139
-
Increased erythrocyte uroporphyrinogen-I-synthetase, δ-aminolevulinic acid dehydratase and protoporphyrin in hemolytic anemias
-
Anderson KE, Sassa S, Peterson CM, Kappas A. Increased erythrocyte uroporphyrinogen-I-synthetase, δ-aminolevulinic acid dehydratase and protoporphyrin in hemolytic anemias. Am J Med 1977;63:359-64.
-
(1977)
Am J Med
, vol.63
, pp. 359-364
-
-
Anderson, K.E.1
Sassa, S.2
Peterson, C.M.3
Kappas, A.4
-
30
-
-
0018146821
-
Variations in erythrocyte uroporphyrinogen I synthetase activity in non porphyrias
-
Blum M, Koehl C, Abecassis J. Variations in erythrocyte uroporphyrinogen I synthetase activity in non porphyrias. Clin Chim Acta 1978;87:119-25.
-
(1978)
Clin Chim Acta
, vol.87
, pp. 119-125
-
-
Blum, M.1
Koehl, C.2
Abecassis, J.3
-
31
-
-
0020605710
-
Erythrocyte uroporphyrinogen synthase activity as a possible diagnostic aid in the diagnosis of lymphoproliferative diseases
-
Epstein O, Lahav M, Schoenfeld N, Nemesh L, Shaklai M, Atsmon A. Erythrocyte uroporphyrinogen synthase activity as a possible diagnostic aid in the diagnosis of lymphoproliferative diseases. Cancer 1983;52:828-32.
-
(1983)
Cancer
, vol.52
, pp. 828-832
-
-
Epstein, O.1
Lahav, M.2
Schoenfeld, N.3
Nemesh, L.4
Shaklai, M.5
Atsmon, A.6
-
32
-
-
0018852290
-
Determination of erythrocyte uroporphyrinogen I synthetase activity in chronic renal failure
-
Andriolo A, Mocelin AJ, Stella SR, Ajzen H, Ramos OL. Determination of erythrocyte uroporphyrinogen I synthetase activity in chronic renal failure. Clin Chim Acta 1980;104:241-4.
-
(1980)
Clin Chim Acta
, vol.104
, pp. 241-244
-
-
Andriolo, A.1
Mocelin, A.J.2
Stella, S.R.3
Ajzen, H.4
Ramos, O.L.5
-
33
-
-
0035675544
-
Variegate porphyria with coexistent decrease in porphobilinogen deaminase activity
-
Weinlich G, Doss MO, Sepp N, Fritsch P. Variegate porphyria with coexistent decrease in porphobilinogen deaminase activity. Acta Derm Venereol 2001;81:356-9.
-
(2001)
Acta Derm Venereol
, vol.81
, pp. 356-359
-
-
Weinlich, G.1
Doss, M.O.2
Sepp, N.3
Fritsch, P.4
-
34
-
-
0023010893
-
Increased activity of porphobilinogen deaminase in erythrocytes during attacks of acute intermittent porphyria
-
Kostrzewska E, Gregor A. Increased activity of porphobilinogen deaminase in erythrocytes during attacks of acute intermittent porphyria. Ann Clin Res 1986;18:195-8.
-
(1986)
Ann Clin Res
, vol.18
, pp. 195-198
-
-
Kostrzewska, E.1
Gregor, A.2
|