-
1
-
-
0000718795
-
Disorders of Heme Biosynthesis: X-Linked Sideroblastic Anemia and the Porphyrias
-
Scriver CR, Beaudet AL, Valle D, Sly WS (eds.). McGraw-Hill, New York, USA
-
Anderson KE, Sassa S, Bishop DF, Desnick RJ. (2001) Disorders of Heme Biosynthesis: X-Linked Sideroblastic Anemia and the Porphyrias. In: The Metabolic and Molecular Bases of Inherited Disease (Vol. 2). Scriver CR, Beaudet AL, Valle D, Sly WS (eds.). McGraw-Hill, New York, USA, pp. 2991-3062.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, vol.2
, pp. 2991-3062
-
-
Anderson, K.E.1
Sassa, S.2
Bishop, D.F.3
Desnick, R.J.4
-
2
-
-
0014027226
-
The induction in vitro of the synthesis of delta-aminolevulinic acid synthetase in chemical porphyria: A response to certain drugs, sex hormones, and foreign chemicals
-
Granick S. (1966) The induction in vitro of the synthesis of delta-aminolevulinic acid synthetase in chemical porphyria: A response to certain drugs, sex hormones, and foreign chemicals. J. Biol. Chem. 241:1359-75.
-
(1966)
J. Biol. Chem.
, vol.241
, pp. 1359-1375
-
-
Granick, S.1
-
3
-
-
0015149333
-
The serum porphobilinogen and hepatic porphobilinogen deaminase in normal and porphyric individuals
-
Miyagi K, Cardinal R, Bossenmaier I, Watson CJ. (1971) The serum porphobilinogen and hepatic porphobilinogen deaminase in normal and porphyric individuals. J. Lab. Clin. Med. 78(5):683-95.
-
(1971)
J. Lab. Clin. Med.
, vol.78
, Issue.5
, pp. 683-695
-
-
Miyagi, K.1
Cardinal, R.2
Bossenmaier, I.3
Watson, C.J.4
-
4
-
-
0001316251
-
Porphyrin content of bone marrow and liver in the various forms of porphyria
-
Schmid R, Schwartz S, Watson CJ. (1954) Porphyrin content of bone marrow and liver in the various forms of porphyria. AMA Arch. Int. Med. 93:167-90.
-
(1954)
AMA Arch. Int. Med.
, vol.93
, pp. 167-190
-
-
Schmid, R.1
Schwartz, S.2
Watson, C.J.3
-
5
-
-
0014722415
-
Acute intermittent porphyria. Increased ALA-synthetase activity during an acute attack
-
Sweeney VP, Pathak MA, Asbury AK. (1970) Acute intermittent porphyria. Increased ALA-synthetase activity during an acute attack. Brain. 93:369-80.
-
(1970)
Brain
, vol.93
, pp. 369-380
-
-
Sweeney, V.P.1
Pathak, M.A.2
Asbury, A.K.3
-
6
-
-
3042716600
-
Fate of porphobilinogen in the rat. Relation to acute porphyria in man
-
Goldberg A, Rimington C. (1954) Fate of porphobilinogen in the rat. Relation to acute porphyria in man. Lancet 2:172-3.
-
(1954)
Lancet
, vol.2
, pp. 172-173
-
-
Goldberg, A.1
Rimington, C.2
-
7
-
-
0034522963
-
Porphyrins, porphyrin metabolism and porphyrias. I. Update
-
Thunell S. (2000) Porphyrins, porphyrin metabolism and porphyrias. I. Update. Scand. J. Clin. Lab. Invest. 60(7):509-40.
-
(2000)
Scand. J. Clin. Lab. Invest.
, vol.60
, Issue.7
, pp. 509-540
-
-
Thunell, S.1
-
8
-
-
0030016990
-
Oxidative stress in acute intermittent porphyria and lead poisoning may be triggered by 5-aminolevulinic acid
-
Bechara EJH. (1996) Oxidative stress in acute intermittent porphyria and lead poisoning may be triggered by 5-aminolevulinic acid. Braz. J. Med. Biol. Res. 29:841-51.
-
(1996)
Braz. J. Med. Biol. Res.
, vol.29
, pp. 841-851
-
-
Bechara, E.J.H.1
-
10
-
-
0031940457
-
Acute porphyria: Treatment with heme
-
Tenhunen R, Mustajoki P. (1998) Acute porphyria: treatment with heme. Semin. Liver Dis. 18(1):53-5.
-
(1998)
Semin. Liver Dis.
, vol.18
, Issue.1
, pp. 53-55
-
-
Tenhunen, R.1
Mustajoki, P.2
-
11
-
-
0036279280
-
Management of acute and cutaneous porphyrias
-
Badminton MN, Elder GH. (2002) Management of acute and cutaneous porphyrias. Int. J. Clin. Pract. 56(4):272-8.
-
(2002)
Int. J. Clin. Pract.
, vol.56
, Issue.4
, pp. 272-278
-
-
Badminton, M.N.1
Elder, G.H.2
-
12
-
-
24444453030
-
First clinical trial of i.v. rhPBGD in healthy subjects with and without diagnosed manifest acute intermittent porphyria (AIP)
-
Sardh E, Rejkjaer L, Harper P, Andersson DE. (2003) First clinical trial of i.v. rhPBGD in healthy subjects with and without diagnosed manifest acute intermittent porphyria (AIP). Physiol. Res. 52:23S.
-
(2003)
Physiol. Res.
, vol.52
-
-
Sardh, E.1
Rejkjaer, L.2
Harper, P.3
Andersson, D.E.4
-
13
-
-
0023141499
-
Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from o single gene
-
Grandchamp B, De Verneuil H, Beaumont C, Chretien S, Walter O, Nordmann Y. (1987) Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from o single gene. Eur. J. Biochem. 162(1):105-10.
-
(1987)
Eur. J. Biochem.
, vol.162
, Issue.1
, pp. 105-110
-
-
Grandchamp, B.1
De Verneuil, H.2
Beaumont, C.3
Chretien, S.4
Walter, O.5
Nordmann, Y.6
-
14
-
-
0030069657
-
Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria
-
Lindberg RL et al. (1996) Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria. Nat Genet. 12(2):195-9.
-
(1996)
Nat. Genet.
, vol.12
, Issue.2
, pp. 195-199
-
-
Lindberg, R.L.1
-
15
-
-
0034533523
-
Limited heme synthesis in porphobilinogen deaminase-deficient mice impairs transcriptional activation of specific cytochrome P450 genes by phenobarbital
-
Jover R, Hoffmann F, Scheffler-Koch V, Lindberg RL. (2000) Limited heme synthesis in porphobilinogen deaminase-deficient mice impairs transcriptional activation of specific cytochrome P450 genes by phenobarbital. Eur. J. Biochem. 267(24):7128-37.
-
(2000)
Eur. J. Biochem.
, vol.267
, Issue.24
, pp. 7128-7137
-
-
Jover, R.1
Hoffmann, F.2
Scheffler-Koch, V.3
Lindberg, R.L.4
-
16
-
-
0016320440
-
A red cell enzyme method for the diagnosis of acute intermittent porphyria
-
Magnussen CR, Levine JB, Doherty JM, Cheesman JO, Tschudy DP (1974). A red cell enzyme method for the diagnosis of acute intermittent porphyria. Blood. 44(6):857-68.
-
(1974)
Blood
, vol.44
, Issue.6
, pp. 857-868
-
-
Magnussen, C.R.1
Levine, J.B.2
Doherty, J.M.3
Cheesman, J.O.4
Tschudy, D.P.5
-
17
-
-
0036105681
-
Non-viral mediated gene transfer of porphobilinogen deaminase into mammalian cells
-
Johansson A, Möller C, Gellerfors P, Harper P. (2002) Non-viral mediated gene transfer of porphobilinogen deaminase into mammalian cells. Scand. J. Clin. Lab. Invest. 62(2):105-14.
-
(2002)
Scand. J. Clin. Lab. Invest.
, vol.62
, Issue.2
, pp. 105-114
-
-
Johansson, A.1
Möller, C.2
Gellerfors, P.3
Harper, P.4
-
18
-
-
0002146023
-
Physical chemistry composition of blood hematology somatometric data
-
Ciba-Geigy
-
Lentner C. (1984) Physical chemistry composition of blood hematology somatometric data. In: Geigy Scientific Tables (Vol. 3), Ciba-Geigy, pp. 166-7.
-
(1984)
Geigy Scientific Tables
, vol.3
, pp. 166-167
-
-
Lentner, C.1
-
19
-
-
0014102155
-
Urinary delta-aminolevulinic acid (ALA) levels in lead poisoning. I. A modified method for the rapid determination of urinary delta-aminolevulinic acid using disposable ion-exchange chromatography columns
-
Davis JR, Andelman SL. (1967) Urinary delta-aminolevulinic acid (ALA) levels in lead poisoning. I. A modified method for the rapid determination of urinary delta-aminolevulinic acid using disposable ion-exchange chromatography columns. Arch. Envir. Health. 15:53-9.
-
(1967)
Arch. Envir. Health
, vol.15
, pp. 53-59
-
-
Davis, J.R.1
Andelman, S.L.2
-
20
-
-
0000417909
-
Hematology
-
Foster HL, Small JD, Fox JG (eds.). Academic Press, Orlando, FL, USA
-
Bannerman RM. (1983) Hematology. In: The mouse in medical research (Vol. III). Foster HL, Small JD, Fox JG (eds.). Academic Press, Orlando, FL, USA, pp. 293-312.
-
(1983)
The Mouse in Medical Research
, vol.3
, pp. 293-312
-
-
Bannerman, R.M.1
-
21
-
-
0017289492
-
Sequential induction of heme pathway enzymes during erythroid differentiation of mouse friend leukemia virus-infected cells
-
Sassa S. (1976) Sequential induction of heme pathway enzymes during erythroid differentiation of mouse friend leukemia virus-infected cells. J. Exp. Med. 143:305-15.
-
(1976)
J. Exp. Med.
, vol.143
, pp. 305-315
-
-
Sassa, S.1
-
22
-
-
0033560646
-
Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria
-
Lindberg RL et al. (1999) Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria. J. Clin. Invest. 103(8):1127-34.
-
(1999)
J. Clin. Invest.
, vol.103
, Issue.8
, pp. 1127-1134
-
-
Lindberg, R.L.1
-
23
-
-
24444447071
-
Correlation between plasma and urinary levels of porphobilinogen (PBG) and 5-aminolevulinic acid (ALA) in ten asymptomatic gene carriers of acute intermittent porphyria (AIP) with increased porphyrin precursor excretion
-
Harper P, Floderus Y, Andersson C, Möller C, Rejkjaer L, Sardh E, Andersson DE. (2003) Correlation between plasma and urinary levels of porphobilinogen (PBG) and 5-aminolevulinic acid (ALA) in ten asymptomatic gene carriers of acute intermittent porphyria (AIP) with increased porphyrin precursor excretion. Physiol. Res. 52:10S.
-
(2003)
Physiol. Res.
, vol.52
-
-
Harper, P.1
Floderus, Y.2
Andersson, C.3
Möller, C.4
Rejkjaer, L.5
Sardh, E.6
Andersson, D.E.7
-
24
-
-
0014313793
-
Stability of delta-aminolevulinic acid and porphobilinogen in urine under varying conditions
-
Bossenmaier I, Cardinal R. (1968) Stability of delta-aminolevulinic acid and porphobilinogen in urine under varying conditions. Clin. Chem. 14:610-4.
-
(1968)
Clin. Chem.
, vol.14
, pp. 610-614
-
-
Bossenmaier, I.1
Cardinal, R.2
-
25
-
-
0032030887
-
Genetic defects in the porphyrias: Types and significance
-
Elder GH. (1998) Genetic defects in the porphyrias: types and significance. Clin. Dermatol. 16(2):225-33.
-
(1998)
Clin. Dermatol.
, vol.16
, Issue.2
, pp. 225-233
-
-
Elder, G.H.1
-
26
-
-
0029070018
-
Markers for vulnerability in acute porphyria. A hypothesis paper
-
Thunell S et al. (1995) Markers for vulnerability in acute porphyria. A hypothesis paper. Eur. J. Clin. Chem. Clin. Biochem. 33(4):179-94.
-
(1995)
Eur. J. Clin. Chem. Clin. Biochem.
, vol.33
, Issue.4
, pp. 179-194
-
-
Thunell, S.1
-
27
-
-
0014276210
-
The metabolism af [5-14C]delta-aminolaevulinic acid in normal and porphyric human subjects
-
Dowdle E, Mustard P, Spong N, Eales L. (1968) The metabolism af [5-14C]delta-aminolaevulinic acid in normal and porphyric human subjects. Clin. Sci. 34:233-51.
-
(1968)
Clin. Sci.
, vol.34
, pp. 233-251
-
-
Dowdle, E.1
Mustard, P.2
Spong, N.3
Eales, L.4
-
28
-
-
0026766320
-
Sustained high plasma 5-aminolaevulinic acid concentration in a volunteer: No porphyric symptoms
-
Mustajoki P, Timonen K, Gorchein A, Seppalainen AM, Matikainen E, Tenhunen R. (1992) Sustained high plasma 5-aminolaevulinic acid concentration in a volunteer: no porphyric symptoms. Eur. J. Clin. Invest. 22(6):407-11.
-
(1992)
Eur. J. Clin. Invest.
, vol.22
, Issue.6
, pp. 407-411
-
-
Mustajoki, P.1
Timonen, K.2
Gorchein, A.3
Seppalainen, A.M.4
Matikainen, E.5
Tenhunen, R.6
-
29
-
-
0021282160
-
Neuropharmacology af delta-aminolaevulinic acid-I. Effect of acute administration in rodents
-
Edwards SR, Shanley BC, Reynoldson JA. (1984) Neuropharmacology af delta-aminolaevulinic acid-I. Effect of acute administration in rodents. Neuropharmacology 23:477-81.
-
(1984)
Neuropharmacology
, vol.23
, pp. 477-481
-
-
Edwards, S.R.1
Shanley, B.C.2
Reynoldson, J.A.3
-
30
-
-
0015009390
-
Presynaptic neuromuscular inhibition by porphobilinogen and porphobilin
-
Feldman DS, Levere RD, Lieberman JS, Cardinal RA, Watson CJ. (1971) Presynaptic neuromuscular inhibition by porphobilinogen and porphobilin. Proc. Nat. Acad. Sci. U.S.A. 68:383-6.
-
(1971)
Proc. Nat. Acad. Sci. U.S.A.
, vol.68
, pp. 383-386
-
-
Feldman, D.S.1
Levere, R.D.2
Lieberman, J.S.3
Cardinal, R.A.4
Watson, C.J.5
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