-
1
-
-
0001744367
-
The porphyrias
-
C.R. Scriver, A.L. Beaudet, W.S. Sly, and D. Valle, editors. McGraw-Hill. New York, NY.
-
Kappas, A., Sassa, S., Galdbraith, R.A., and Nordmann, Y. 1989. The porphyrias. In The metabolic basis of inherited disease. C.R. Scriver, A.L. Beaudet, W.S. Sly, and D. Valle, editors. McGraw-Hill. New York, NY. 1305-1365.
-
(1989)
The Metabolic Basis of Inherited Disease
, pp. 1305-1365
-
-
Kappas, A.1
Sassa, S.2
Galdbraith, R.A.3
Nordmann, Y.4
-
2
-
-
0002179443
-
Porphyrical neuropathy
-
P.J. Dyck, P.K. Thomas, J.W. Griffin, P.A. Low, and J.F. Poduslo, editors. W.B. Saunders. Philadelphia, PA
-
Windebank, A.J., and Bonkovsky, H.L. 1993. Porphyrical neuropathy. In Peripheric neuropathy. P.J. Dyck, P.K. Thomas, J.W. Griffin, P.A. Low, and J.F. Poduslo, editors. W.B. Saunders. Philadelphia, PA. 1161-1168.
-
(1993)
Peripheric Neuropathy
, pp. 1161-1168
-
-
Windebank, A.J.1
Bonkovsky, H.L.2
-
3
-
-
0030916157
-
The acute porphyrias
-
Elder, G.H., Hift, R.J., and Meissner, P.N. 1997. The acute porphyrias. Lancet. 349:1613-1617.
-
(1997)
Lancet
, vol.349
, pp. 1613-1617
-
-
Elder, G.H.1
Hift, R.J.2
Meissner, P.N.3
-
4
-
-
0031890977
-
Acute porphyrias: Pathogenesis of neurological manifestations
-
Meyer, U.A., Schuurmans, M.M., and Lindberg, R.L.P. 1998. Acute porphyrias: pathogenesis of neurological manifestations. Semin. Liver Dis. 18:43-52.
-
(1998)
Semin. Liver Dis.
, vol.18
, pp. 43-52
-
-
Meyer, U.A.1
Schuurmans, M.M.2
Lindberg, R.L.P.3
-
5
-
-
0030069657
-
Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria
-
Lindberg, R.L.P., et al. 1996. Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria. Nat. Genet. 12:195-199.
-
(1996)
Nat. Genet.
, vol.12
, pp. 195-199
-
-
Lindberg, R.L.P.1
-
6
-
-
0020137405
-
Neurologic manifestation of acute porphyria
-
Bonkovsky, H.L., and Schady, W. 1982. Neurologic manifestation of acute porphyria. Semin. Liver Dis. 2:108-124.
-
(1982)
Semin. Liver Dis.
, vol.2
, pp. 108-124
-
-
Bonkovsky, H.L.1
Schady, W.2
-
7
-
-
0015153851
-
Repression of the overproduction of porphyrin precursors in acute intermittent porphyria by intravenous infusion of hematin
-
Bonkovsky, H.L., et al. 1971. Repression of the overproduction of porphyrin precursors in acute intermittent porphyria by intravenous infusion of hematin. Proc. Natl. Acad. Sci. USA. 62:2725-2729.
-
(1971)
Proc. Natl. Acad. Sci. USA
, vol.62
, pp. 2725-2729
-
-
Bonkovsky, H.L.1
-
8
-
-
0018375948
-
δ-aminolaevulinic acid is a potent agonist for GABa autoreceptors
-
Brennan, M.J.W., and Cantrill, R.C. 1979. δ-aminolaevulinic acid is a potent agonist for GABA autoreceptors. Nature. 280:514-515.
-
(1979)
Nature
, vol.280
, pp. 514-515
-
-
Brennan, M.J.W.1
Cantrill, R.C.2
-
9
-
-
0025890396
-
Free radicals involvement in neurological porphyrias and lead poisoning
-
Monteiro, H.P., Bechara, E.J.H., and Abdalla, D.S.P. 1991. Free radicals involvement in neurological porphyrias and lead poisoning. Mol. Cell. Biol. 103:73-83.
-
(1991)
Mol. Cell. Biol.
, vol.103
, pp. 73-83
-
-
Monteiro, H.P.1
Bechara, E.J.H.2
Abdalla, D.S.P.3
-
10
-
-
0021282160
-
Neuropharmacology of delta-aminolaevulinic acid 1. Effect of acute administration in rodents
-
Edwards, S.R., Shanley, B.C., and Reynoldson, J.A. 1984. Neuropharmacology of delta-aminolaevulinic acid 1. Effect of acute administration in rodents. Neuropharmacology. 23:477-481.
-
(1984)
Neuropharmacology
, vol.23
, pp. 477-481
-
-
Edwards, S.R.1
Shanley, B.C.2
Reynoldson, J.A.3
-
11
-
-
0023205969
-
δ-aminolevulinic acid in plasma, cerebrospinal fluid, saliva and erythrocytes: Studies in normal, uraemic and porphyric subjects
-
Gorchein, A., and Webber, R. 1987. δ-aminolevulinic acid in plasma, cerebrospinal fluid, saliva and erythrocytes: studies in normal, uraemic and porphyric subjects. Clin. Sci. 72:103-112.
-
(1987)
Clin. Sci.
, vol.72
, pp. 103-112
-
-
Gorchein, A.1
Webber, R.2
-
12
-
-
0021287509
-
Neurobehavioral techniques to assess the effects of chemicals on the nervous system
-
Tilson, H.A., and Mitchell, C.L. 1984. Neurobehavioral techniques to assess the effects of chemicals on the nervous system. Annu. Rev. Pharmacol. Toxicol. 24:425-450.
-
(1984)
Annu. Rev. Pharmacol. Toxicol.
, vol.24
, pp. 425-450
-
-
Tilson, H.A.1
Mitchell, C.L.2
-
13
-
-
0030979840
-
Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32
-
Anzini, P., et al. 1997. Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32. J. Neurosci. 17:4545-4551.
-
(1997)
J. Neurosci.
, vol.17
, pp. 4545-4551
-
-
Anzini, P.1
-
14
-
-
0031022558
-
Absence of the myelin-associated glycoprotein (MAG) and the neural cell adhesion molecule (N-CAM) interferes with the maintenance but not with the formation of peripheral myelin
-
Carenini, S., Montag, D., Cremer, H., Schachner, M., and Martini, R. 1997. Absence of the myelin-associated glycoprotein (MAG) and the neural cell adhesion molecule (N-CAM) interferes with the maintenance but not with the formation of peripheral myelin. Cell Tissue Res. 287:3-9.
-
(1997)
Cell Tissue Res.
, vol.287
, pp. 3-9
-
-
Carenini, S.1
Montag, D.2
Cremer, H.3
Schachner, M.4
Martini, R.5
-
15
-
-
0021274461
-
Production and characterization of monoclonal antibodies to peripheral and central nervous system myelin
-
Miller, S.L., et al. 1984. Production and characterization of monoclonal antibodies to peripheral and central nervous system myelin. J. Neurochem. 43:394-400.
-
(1984)
J. Neurochem.
, vol.43
, pp. 394-400
-
-
Miller, S.L.1
-
16
-
-
0029666023
-
Functional abnormalities in P0-deficient mice resemble human hereditary neuropathies linked to P0 gene mutations
-
Zielasek, J., Martini, R., and Toyka, K.V. 1996. Functional abnormalities in P0-deficient mice resemble human hereditary neuropathies linked to P0 gene mutations. Muscle Nerve. 19:946-952.
-
(1996)
Muscle Nerve
, vol.19
, pp. 946-952
-
-
Zielasek, J.1
Martini, R.2
Toyka, K.V.3
-
17
-
-
0025994730
-
Microdialysis-principles and applications for studies in animals and man
-
Ungerstedt, U. 1991. Microdialysis-principles and applications for studies in animals and man. J. Intern. Med. 230:365-373.
-
(1991)
J. Intern. Med.
, vol.230
, pp. 365-373
-
-
Ungerstedt, U.1
-
18
-
-
0023573954
-
Optimized liquid-chromarographic method for fluorometric determination of urinary δ-aminolevulinic acid in workers exposed to lead
-
Tomokuni, K., Ichiba, M., Hirai, Y., and Hasegawa, T. 1987. Optimized liquid-chromarographic method for fluorometric determination of urinary δ-aminolevulinic acid in workers exposed to lead. Clin. Chem. 33:1665-1667.
-
(1987)
Clin. Chem.
, vol.33
, pp. 1665-1667
-
-
Tomokuni, K.1
Ichiba, M.2
Hirai, Y.3
Hasegawa, T.4
-
19
-
-
0016512240
-
Peripheral nerve lesions in acute intermittent porphyria
-
Wakayama, Y., Muroga, T., Hibino, R., Matsui, T., and Utsumi, M. 1975. Peripheral nerve lesions in acute intermittent porphyria. Rinsho Shinkeigaku. 15:333-339.
-
(1975)
Rinsho Shinkeigaku
, vol.15
, pp. 333-339
-
-
Wakayama, Y.1
Muroga, T.2
Hibino, R.3
Matsui, T.4
Utsumi, M.5
-
20
-
-
0018118333
-
Electrodiagnostic findings in acute porphyric neuropathy
-
Albers, J.W., Robertson, W.C., and Daube, J.R. 1978. Electrodiagnostic findings in acute porphyric neuropathy. Muscle Nerve. 1:292-296.
-
(1978)
Muscle Nerve
, vol.1
, pp. 292-296
-
-
Albers, J.W.1
Robertson, W.C.2
Daube, J.R.3
-
21
-
-
0017328230
-
Electromyogram and nerve condition in patients with acute intermittent porphyria
-
Flügel, K.A., and Druschky, K.F. 1977. Electromyogram and nerve condition in patients with acute intermittent porphyria. J. Neurol. 214:257-279.
-
(1977)
J. Neurol.
, vol.214
, pp. 257-279
-
-
Flügel, K.A.1
Druschky, K.F.2
-
22
-
-
0000662636
-
On the nature of peripheral nerve lesions associated with acute intermittent porphyria
-
Cavanagh, J.B., and Mellick, R.S. 1965. On the nature of peripheral nerve lesions associated with acute intermittent porphyria. J. Neurol. Neurosurg. Psychiatry. 28:320-327.
-
(1965)
J. Neurol. Neurosurg. Psychiatry.
, vol.28
, pp. 320-327
-
-
Cavanagh, J.B.1
Mellick, R.S.2
-
23
-
-
0021092439
-
L-tryptophan: A common denominator of biochemical and neurological events of acute hepatic porphyria
-
Litman, D.A., and Correia, M.A. 1983. L-tryptophan: a common denominator of biochemical and neurological events of acute hepatic porphyria. Science. 222:1031-1033.
-
(1983)
Science
, vol.222
, pp. 1031-1033
-
-
Litman, D.A.1
Correia, M.A.2
-
24
-
-
0016592902
-
Neuropathy in latent hereditary hepatic porphyria
-
Mustajoki, P., and Seppäläinen, A.M. 1975. Neuropathy in latent hereditary hepatic porphyria. Br. Med. J. 2:310-312.
-
(1975)
Br. Med. J.
, vol.2
, pp. 310-312
-
-
Mustajoki, P.1
Seppäläinen, A.M.2
-
25
-
-
0014876255
-
Heme biosynthesis in intermittent acute porphyria: Decreased hepatic conversion of porphobilinogen to porphyrins and increased delta-aminolevulinic acid synthetase activity
-
Strand, L.J., Felsher, B.F., Redeker, A.G., and Marver, H.S. 1970. Heme biosynthesis in intermittent acute porphyria: decreased hepatic conversion of porphobilinogen to porphyrins and increased delta-aminolevulinic acid synthetase activity. Proc. Natl. Acad. Sci. USA. 67:1315-1320.
-
(1970)
Proc. Natl. Acad. Sci. USA
, vol.67
, pp. 1315-1320
-
-
Strand, L.J.1
Felsher, B.F.2
Redeker, A.G.3
Marver, H.S.4
-
26
-
-
0026766320
-
Sustained high plasma 5-aminolaevulinic acid concentration in a volunteer: No porphyric symptoms
-
Mustajoki, P., et al. 1992. Sustained high plasma 5-aminolaevulinic acid concentration in a volunteer: no porphyric symptoms. Eur. J. Clin. Invest. 22:407-411.
-
(1992)
Eur. J. Clin. Invest.
, vol.22
, pp. 407-411
-
-
Mustajoki, P.1
-
27
-
-
0014703261
-
Acute intermittent porphyria. A clinical and biochemical study of 46 patients
-
Stein, J.A., and Tschudy, D.P. 1970. Acute intermittent porphyria. A clinical and biochemical study of 46 patients. Medicine. 49:1-16.
-
(1970)
Medicine
, vol.49
, pp. 1-16
-
-
Stein, J.A.1
Tschudy, D.P.2
-
28
-
-
0017622644
-
Porphyrin precursors in blood, urine and cerebrospinal fluid in acute porphyria
-
Percy, V.A., and Shanley, B.C. 1977. Porphyrin precursors in blood, urine and cerebrospinal fluid in acute porphyria. S. Afr. Med. J. 52:219-222.
-
(1977)
S. Afr. Med. J.
, vol.52
, pp. 219-222
-
-
Percy, V.A.1
Shanley, B.C.2
-
29
-
-
0014722415
-
Acute intermittent porphyria: Increase ALA-synthetase activity during an acute attack
-
Sweeney, V.P., Pathak, M.A., and Asbury, A.K. 1970. Acute intermittent porphyria: increase ALA-synthetase activity during an acute attack. Brain. 93:369-380.
-
(1970)
Brain
, vol.93
, pp. 369-380
-
-
Sweeney, V.P.1
Pathak, M.A.2
Asbury, A.K.3
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