-
1
-
-
0001744367
-
The porphyrias
-
(eds Scriver, C. et al.) New York, McGraw-Hill
-
Kappas, A., Sassa, S., Galbraith, R.A. & Nordmann, Y. The porphyrias. In The Metabolic Basis of Inherited Disease (eds Scriver, C. et al.) 1306-1365 (New York, McGraw-Hill, 1989).
-
(1989)
The Metabolic Basis of Inherited Disease
, pp. 1306-1365
-
-
Kappas, A.1
Sassa, S.2
Galbraith, R.A.3
Nordmann, Y.4
-
2
-
-
0027519644
-
Molecular genetics of disorders of haem biosynthesis
-
Elder, G.H. Molecular genetics of disorders of haem biosynthesis. J. Clin. Pathol. 46, 977-981 (1993).
-
(1993)
J. Clin. Pathol.
, vol.46
, pp. 977-981
-
-
Elder, G.H.1
-
3
-
-
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, 590-594 (1993).
-
(1993)
Gastroenterology
, vol.105
, pp. 590-594
-
-
Bonkovsky, H.L.1
-
4
-
-
0022343691
-
High prevalence of acute intermittent porphyria in a psychiatric patient population
-
Tishler, P. V. et al. High prevalence of acute intermittent porphyria in a psychiatric patient population. Am. J. Psychiat. 142, 1430-1436 (1985).
-
(1985)
Am. J. Psychiat.
, vol.142
, pp. 1430-1436
-
-
Tishler, P.V.1
-
5
-
-
0026317793
-
Establishment of a germ-line competent C57BL/6 embryonic stem cell line
-
Ledermann, B. & Bürki, K. Establishment of a germ-line competent C57BL/6 embryonic stem cell line. Exp. Cell Res. 197, 254-258 (1991).
-
(1991)
Exp. Cell Res.
, vol.197
, pp. 254-258
-
-
Ledermann, B.1
Bürki, K.2
-
6
-
-
0023141499
-
Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene
-
Grandchamp, B. et al. Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene. Eur. J. Biochem. 162, 105-110 (1987).
-
(1987)
Eur. J. Biochem.
, vol.162
, pp. 105-110
-
-
Grandchamp, B.1
-
7
-
-
0024433997
-
The mouse porphobilinogen deaminase gene. Structural organization, sequence and transcriptional analysis
-
Beaumont, C., Porcher, C., Picat, C., Nordmann, Y. & Grandchamp, B. The mouse porphobilinogen deaminase gene. Structural organization, sequence and transcriptional analysis. J. Biol. Chem. 264, 14829-14834 (1989).
-
(1989)
J. Biol. Chem.
, vol.264
, pp. 14829-14834
-
-
Beaumont, C.1
Porcher, C.2
Picat, C.3
Nordmann, Y.4
Grandchamp, B.5
-
8
-
-
0025295251
-
Limited bidirectional activity of two housekeeping gene promoters: Human HPRT and PGK
-
Johnson, P. & Friedmann, T. Limited bidirectional activity of two housekeeping gene promoters: human HPRT and PGK. Gene 88, 207-213 (1990).
-
(1990)
Gene
, vol.88
, pp. 207-213
-
-
Johnson, P.1
Friedmann, T.2
-
9
-
-
0015240081
-
The acute porphyric attack I. The electrolyte disorder of the acute porphyric attack and the possible role of delta-aminolevulinic acid
-
Eales, L. & Dowdle, E.B. The acute porphyric attack I. The electrolyte disorder of the acute porphyric attack and the possible role of delta-aminolevulinic acid. S. Afr. J. Lab. Clin. Med. 17, 89-97 (1971).
-
(1971)
S. Afr. J. Lab. Clin. Med.
, vol.17
, pp. 89-97
-
-
Eales, L.1
Dowdle, E.B.2
-
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. Int. Med. 236, 169-175 (1994).
-
(1994)
J. Int. Med.
, vol.236
, pp. 169-175
-
-
Andersson, C.1
Lithner, F.2
-
11
-
-
0000662636
-
On the nature of the peripheral nerve lesions associated with acute intermittent porphyria
-
Cavanagh, J.B. & Mellick, R.S. On the nature of the peripheral nerve lesions associated with acute intermittent porphyria. J. Neurol. Neurosurg. Psychiat. 28, 320-327 (1965).
-
(1965)
J. Neurol. Neurosurg. Psychiat.
, vol.28
, pp. 320-327
-
-
Cavanagh, J.B.1
Mellick, R.S.2
-
12
-
-
0018764850
-
Quantitative aspects of normal locomotion in rats
-
Hruska, R.E., Kennedy, S. & Silbergeld, E.K. Quantitative aspects of normal locomotion in rats. Life Sci. 25, 171-180 (1979).
-
(1979)
Life Sci.
, vol.25
, pp. 171-180
-
-
Hruska, R.E.1
Kennedy, S.2
Silbergeld, E.K.3
-
13
-
-
0019938340
-
An index of the functional condition of rat sciatic nerve based on measurements made from walking tracks
-
Medinaceli, L., Freed, W.J. & Wyatt, R.J. An index of the functional condition of rat sciatic nerve based on measurements made from walking tracks. Expl. Neurol. 77, 634-643 (1982).
-
(1982)
Expl. Neurol.
, vol.77
, pp. 634-643
-
-
Medinaceli, L.1
Freed, W.J.2
Wyatt, R.J.3
-
14
-
-
0018118333
-
Electrodiagnostic findings in acute porphyric neuropathy
-
Albers, J.W., Robertson, W.C. & Daube, J.R. Electrodiagnostic findings in acute porphyric neuropathy. Muscle Nerve 1, 292-296 (1978).
-
(1978)
Muscle Nerve
, vol.1
, pp. 292-296
-
-
Albers, J.W.1
Robertson, W.C.2
Daube, J.R.3
-
15
-
-
0020137405
-
Neurologic Manifestations of Acute Porphyria
-
Bonkowsky, H.L. & Schady, W. Neurologic Manifestations of Acute Porphyria in Seminar Liver Dis. 2, 108-124 (1982).
-
(1982)
Seminar Liver Dis.
, vol.2
, pp. 108-124
-
-
Bonkowsky, H.L.1
Schady, W.2
-
16
-
-
0017613802
-
δ-Aminolevulinic acid: Influences on synaptic GABA receptor binding may explain CNS symptoms of porphyria
-
Müller, W.E. & Snyder, S.H. δ-Aminolevulinic acid: influences on synaptic GABA receptor binding may explain CNS symptoms of porphyria. Ann. Neurol. 2, 340-342 (1977).
-
(1977)
Ann. Neurol.
, vol.2
, pp. 340-342
-
-
Müller, W.E.1
Snyder, S.H.2
-
17
-
-
0018375948
-
δ-Aminolaevulinic acid is a potent agonist for GABA autoreceptor
-
Brennan, M.J.W. & Cantrill, R.C. δ-Aminolaevulinic acid is a potent agonist for GABA autoreceptor. Nature 280, 514-515 (1979).
-
(1979)
Nature
, vol.280
, pp. 514-515
-
-
Brennan, M.J.W.1
Cantrill, R.C.2
-
18
-
-
0021092439
-
L-Tryptophan: A common denominator of biochemical and neurological events of acute hepatic porphyria
-
Litman, D.A. & Correia, M. A. L-Tryptophan: a common denominator of biochemical and neurological events of acute hepatic porphyria. Science 222, 1031-1033 (1983).
-
(1983)
Science
, vol.222
, pp. 1031-1033
-
-
Litman, D.A.1
Correia, M.A.2
-
19
-
-
0025667993
-
Molecular genetics of porphyrias
-
Nordmann, Y., de Verneuil, H., Deybach, J.-C., Delfau, M.-H. & Grandchamp, B. Molecular genetics of porphyrias. Am. Med. 22, 387-391 (1990).
-
(1990)
Am. Med.
, vol.22
, pp. 387-391
-
-
Nordmann, Y.1
De Verneuil, H.2
Deybach, J.-C.3
Delfau, M.-H.4
Grandchamp, B.5
-
20
-
-
0026727763
-
Structure of porphobilinogen deaminase reveals a flexible multidomain polymerase with a single catalytic site
-
Louie, G.V. et al. Structure of porphobilinogen deaminase reveals a flexible multidomain polymerase with a single catalytic site. Nature 359, 33-39 (1992).
-
(1992)
Nature
, vol.359
, pp. 33-39
-
-
Louie, G.V.1
-
21
-
-
0027946035
-
The three-dimensional structures of mutants of porphobilinogen deaminase: Toward an understanding of the structural basis of acute intermittent porphyria
-
Brownlie, P. D. 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, 1644-1650 (1994).
-
(1994)
Protein Sci.
, vol.3
, pp. 1644-1650
-
-
Brownlie, P.D.1
-
22
-
-
0028113944
-
Acute intermittent porphyria: Identification and expression of exonic mutations in the hydroxymethylbilane synthase gene
-
Chen C.-H., Astrin, K.H., Lee, G., Anderson, K.E. & Desnick, R.J. Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. J. Clin. Invest. 94, 1927-1937 (1994).
-
(1994)
J. Clin. Invest.
, vol.94
, pp. 1927-1937
-
-
Chen, C.-H.1
Astrin, K.H.2
Lee, G.3
Anderson, K.E.4
Desnick, R.J.5
-
23
-
-
0015509185
-
Intermittent acute porphyria: Demostration of a genetic defect in porphobilinogen metabolism
-
Meyer, U.A., Strand, L.J., Doss, M., Rees, A.C. & Marver, H.S. Intermittent acute porphyria: demostration of a genetic defect in porphobilinogen metabolism. N. Engl. J. Med. 286, 1277-1282 (1972).
-
(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
-
24
-
-
0015911921
-
2,3,7,8-Tetrachlorodibenzo-p-dioxin: A potent inducer of aminolevulinic acid synthetase
-
Poland, A. & Glover, E. 2,3,7,8-Tetrachlorodibenzo-p-dioxin: a potent inducer of aminolevulinic acid synthetase. Science 179, 476-477 (1972).
-
(1972)
Science
, vol.179
, pp. 476-477
-
-
Poland, A.1
Glover, E.2
-
25
-
-
0023573954
-
Optimized liquid-chromatographic method for fluorometric determination of urinary δ-aminolevulinic acid in workers exposed to lead
-
Tomokuni, K., Ichiba, M., Hirai, Y. & Hasegawa, T. Optimized liquid-chromatographic method for fluorometric determination of urinary δ-aminolevulinic acid in workers exposed to lead. Clin. Chem. 33, 1665-1667 (1987).
-
(1987)
Clin. Chem.
, vol.33
, pp. 1665-1667
-
-
Tomokuni, K.1
Ichiba, M.2
Hirai, Y.3
Hasegawa, T.4
-
26
-
-
0010983211
-
Die Silber-Imprägnation der Neurofibrillen
-
Bielchowsky M. Die Silber-Imprägnation der Neurofibrillen. J. Psychol. Neurol. 3, 169-188 (1904).
-
(1904)
J. Psychol. Neurol.
, vol.3
, pp. 169-188
-
-
Bielchowsky, M.1
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