-
1
-
-
0000016355
-
The porphyrias
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
1 Kappas A, Sassa S, Calbraith RA et al. The porphyrias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease. New York: McGraw-Hill, 1995; 2103-59.
-
(1995)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 2103-2159
-
-
Kappas, A.1
Sassa, S.2
Calbraith, R.A.3
-
2
-
-
0033528697
-
X-ray structure of 5-aminolevulinic acid dehydratase from Escherichia coli complexed with the inhibitor levulinic acid at 2.0 A resolution
-
2 Erskine PT, Norton E, Cooper JB et al. X-ray structure of 5-aminolevulinic acid dehydratase from Escherichia coli complexed with the inhibitor levulinic acid at 2.0 A resolution. Biochemistry 1999; 38: 4266-76.
-
(1999)
Biochemistry
, vol.38
, pp. 4266-4276
-
-
Erskine, P.T.1
Norton, E.2
Cooper, J.B.3
-
3
-
-
0031941533
-
ALAD porphyria
-
Berk PD, eds. New York: Thieme
-
3 Sassa S. ALAD porphyria. In: Berk PD, eds. Seminars in Liver Disease. New York: Thieme, 1998; 95-101.
-
(1998)
Seminars in Liver Disease
, pp. 95-101
-
-
Sassa, S.1
-
4
-
-
0023713201
-
Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression
-
4 Chretien S, Dubart A, Beaupain D et al. Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression. Proc Natl Acad Sci USA 1988; 85: 6-10.
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, pp. 6-10
-
-
Chretien, S.1
Dubart, A.2
Beaupain, D.3
-
5
-
-
0030959246
-
Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria
-
5 Puy H, Deybach JC, Lamoril J, Da Robreau AMS, Gouya VI. et al. Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria. Am J Hum Genet 1997; 60: 1373-83.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1373-1383
-
-
Puy, H.1
Deybach, J.C.2
Lamoril, J.3
Da Robreau, A.M.S.4
Gouya, V.I.5
-
6
-
-
0027946035
-
The three-dimensional structures of mutants of porphobilinogen deaminase: Toward an understanding of the structural basis of acute intermittent porphyria
-
6 Brownlie PD, Lambert R, Louie GV et al. The three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria. Protein Sci 1994; 3: 1644-50.
-
(1994)
Protein Sci
, vol.3
, pp. 1644-1650
-
-
Brownlie, P.D.1
Lambert, R.2
Louie, G.V.3
-
7
-
-
0030069657
-
Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria
-
7 Lindberg RLP, Porcher C, Grandchamp B et al. Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria. Nature Genet 1996; 12: 195-99.
-
(1996)
Nature Genet
, vol.12
, pp. 195-199
-
-
Lindberg, R.L.P.1
Porcher, C.2
Grandchamp, B.3
-
8
-
-
0027409758
-
Hydroxy-methylbilane synthase: Complete genomic sequence and amplifiable polymorphisms in the human gene
-
8 Yoo HW, Warner CA, Chen CH, Desnick RJ. Hydroxy-methylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene. Genomics 1993; 15: 21-29.
-
(1993)
Genomics
, vol.15
, pp. 21-29
-
-
Yoo, H.W.1
Warner, C.A.2
Chen, C.H.3
Desnick, R.J.4
-
9
-
-
0031952970
-
Molecular genetics of congenital erythropoietic porphyria
-
9 Desnick RJ, Glass IA, Xu W, Solis C, Astrin KH. Molecular genetics of congenital erythropoietic porphyria. Semin Liver Dis 1998; 18: 77-84.
-
(1998)
Semin Liver Dis
, vol.18
, pp. 77-84
-
-
Desnick, R.J.1
Glass, I.A.2
Xu, W.3
Solis, C.4
Astrin, K.H.5
-
10
-
-
0030905555
-
Gene transfer of the uroporphyrinogen III synthase cDNA into haematopoietic progenitor cells in view of a future gene therapy in congenital erythropoietic porphyria
-
10 Mazurier F, Moreau-Gaudry F, Salesse S et al. Gene transfer of the uroporphyrinogen III synthase cDNA into haematopoietic progenitor cells in view of a future gene therapy in congenital erythropoietic porphyria. J Inh Metab Dis 1997; 20: 247-57.
-
(1997)
J Inh Metab Dis
, vol.20
, pp. 247-257
-
-
Mazurier, F.1
Moreau-Gaudry, F.2
Salesse, S.3
-
11
-
-
0028169056
-
Coproporphyrinogen oxidase: Gene organization and description of a mutation leading to exon 6 skipping
-
11 Delfau-Larue MH, Martasek P, Grandchamp B. Coproporphyrinogen oxidase: gene organization and description of a mutation leading to exon 6 skipping. Hum Mol Genet 1994; 3: 1325-30.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1325-1330
-
-
Delfau-Larue, M.H.1
Martasek, P.2
Grandchamp, B.3
-
12
-
-
0032211177
-
Differential regulation of mouse coproporphyrinogen oxidase gene expression in erythroid and non-erythroid cells
-
12 Takahashi S, Taketani S, Akasaka J et al. Differential regulation of mouse coproporphyrinogen oxidase gene expression in erythroid and non-erythroid cells. Blood 1998; 92: 3436-44.
-
(1998)
Blood
, vol.92
, pp. 3436-3444
-
-
Takahashi, S.1
Taketani, S.2
Akasaka, J.3
-
13
-
-
0030568860
-
Protoporphyrinogen oxidase: Complete genomic sequence and polymorphisms in the human gene
-
13 Puy H, Robreau AM, Rosipal R, Nordmann Y, Deybach JC. Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene. Biochem Biophys Res Commun 1996; 226: 226-30.
-
(1996)
Biochem Biophys Res Commun
, vol.226
, pp. 226-230
-
-
Puy, H.1
Robreau, A.M.2
Rosipal, R.3
Nordmann, Y.4
Deybach, J.C.5
-
14
-
-
0030140415
-
A R 59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria
-
14 Meissner PN, Dailey TA, Hift RJ et al. A R 59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. Nature 1996; 13: 95-97.
-
(1996)
Nature
, vol.13
, pp. 95-97
-
-
Meissner, P.N.1
Dailey, T.A.2
Hift, R.J.3
-
15
-
-
0031779289
-
Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria
-
15 Rüfenacht U, Gouya L, Schneider-Yin X et al. Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria. Am J Hum Genet 1998; 62: 1341-52.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1341-1352
-
-
Rüfenacht, U.1
Gouya, L.2
Schneider-Yin, X.3
-
17
-
-
0028234733
-
Mammalian ferrochelatase, a new addition to the metalloenzyme family
-
17 Ferreira GC, Franco R, Lloyd SG et al. Mammalian ferrochelatase, a new addition to the metalloenzyme family. J Biol Chem 1994; 269: 7062-65.
-
(1994)
J Biol Chem
, vol.269
, pp. 7062-7065
-
-
Ferreira, G.C.1
Franco, R.2
Lloyd, S.G.3
-
18
-
-
0031573454
-
Crystal structure of ferrochelatase: The terminal enzyme in heme biosynthesis
-
18 Al-Karadaghi S, Hansson M, Nikonov S, Jonsson B, Hedersledt L. Crystal structure of ferrochelatase: the terminal enzyme in heme biosynthesis. Structure 1997; 5: 1501-10.
-
(1997)
Structure
, vol.5
, pp. 1501-1510
-
-
Al-Karadaghi, S.1
Hansson, M.2
Nikonov, S.3
Jonsson, B.4
Hedersledt, L.5
-
19
-
-
0027952902
-
Screening for ferrochelatase mutations: Molecular heterogeneity of erythropoietic protoporphyria
-
19 Wang X. Poh-Fitzpatrick M, Taketani S, Chen T, Piomelli S. Screening for ferrochelatase mutations: molecular heterogeneity of erythropoietic protoporphyria. Biochim Biophys Acta 1994; 1225: 187-90.
-
(1994)
Biochim Biophys Acta
, vol.1225
, pp. 187-190
-
-
Wang, X.1
Poh-Fitzpatrick, M.2
Taketani, S.3
Chen, T.4
Piomelli, S.5
-
20
-
-
0027167487
-
Ferrochelatase structural mutant (Fechm I Pas) in the house mouse
-
20 Boulechfar S, Lamoril J, Montagutelli X et al. Ferrochelatase structural mutant (Fechm I Pas) in the house mouse. Genomics 1993; 16: 645-48.
-
(1993)
Genomics
, vol.16
, pp. 645-648
-
-
Boulechfar, S.1
Lamoril, J.2
Montagutelli, X.3
-
21
-
-
0025748882
-
Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease
-
21 Tutois S, Montagutelli X, Da Silva V et al. Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease. J Clin Invest 1991; 88: 1730-36.
-
(1991)
J Clin Invest
, vol.88
, pp. 1730-1736
-
-
Tutois, S.1
Montagutelli, X.2
Da Silva, V.3
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