-
2
-
-
0000718795
-
Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias
-
Scriver C.R., et al. (Ed), McGraw-Hill, NY
-
Anderson K.E., et al. Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias. In: Scriver C.R., et al. (Ed). The Metabolic and Molecular Bases of Inherited Disease (2001), McGraw-Hill, NY 2991-3062
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2991-3062
-
-
Anderson, K.E.1
-
3
-
-
0026535358
-
Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X; autosome translocations
-
Cotter P.D., et al. Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X; autosome translocations. Genomics 13 1 (1992) 211-212
-
(1992)
Genomics
, vol.13
, Issue.1
, pp. 211-212
-
-
Cotter, P.D.1
-
4
-
-
0025186871
-
Erythroid 5-aminolevulinate synthase is located on the X chromosome
-
Cox T.C., et al. Erythroid 5-aminolevulinate synthase is located on the X chromosome. Am. J. Hum. Genet. 46 1 (1990) 107-111
-
(1990)
Am. J. Hum. Genet.
, vol.46
, Issue.1
, pp. 107-111
-
-
Cox, T.C.1
-
5
-
-
25144499698
-
Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans
-
Astner I., et al. Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans. EMBO J. 24 18 (2005) 3166-3177
-
(2005)
EMBO J.
, vol.24
, Issue.18
, pp. 3166-3177
-
-
Astner, I.1
-
6
-
-
0027405813
-
Regulation by heme of mitochondrial protein transport through a conserved amino acid motif
-
Lathrop J.T., and Timko M.P. Regulation by heme of mitochondrial protein transport through a conserved amino acid motif. Science 259 5094 (1993) 522-525
-
(1993)
Science
, vol.259
, Issue.5094
, pp. 522-525
-
-
Lathrop, J.T.1
Timko, M.P.2
-
7
-
-
4644371570
-
Role of the heme regulatory motif in the heme-mediated inhibition of mitochondrial import of 5-aminolevulinate synthase
-
Munakata H., et al. Role of the heme regulatory motif in the heme-mediated inhibition of mitochondrial import of 5-aminolevulinate synthase. J. Biochem. (Tokyo) 136 2 (2004) 233-238
-
(2004)
J. Biochem. (Tokyo)
, vol.136
, Issue.2
, pp. 233-238
-
-
Munakata, H.1
-
8
-
-
14844322251
-
Examination of mitochondrial protein targeting of haem synthetic enzymes: in vivo identification of three functional haem-responsive motifs in 5-aminolaevulinate synthase
-
Dailey T.A., Woodruff J.H., and Dailey H.A. Examination of mitochondrial protein targeting of haem synthetic enzymes: in vivo identification of three functional haem-responsive motifs in 5-aminolaevulinate synthase. Biochem. J. 386 Pt. 2 (2005) 381-386
-
(2005)
Biochem. J.
, vol.386
, Issue.PART 2
, pp. 381-386
-
-
Dailey, T.A.1
Woodruff, J.H.2
Dailey, H.A.3
-
9
-
-
0035911678
-
Alternative splicing and tissue-specific transcription of human and rodent ubiquitous 5-aminolevulinate synthase (ALAS1) genes
-
Roberts A.G., and Elder G.H. Alternative splicing and tissue-specific transcription of human and rodent ubiquitous 5-aminolevulinate synthase (ALAS1) genes. Biochim. Biophys. Acta 1518 1-2 (2001) 95-105
-
(2001)
Biochim. Biophys. Acta
, vol.1518
, Issue.1-2
, pp. 95-105
-
-
Roberts, A.G.1
Elder, G.H.2
-
10
-
-
0023923103
-
Regulation of 5-aminolevulinate synthase mRNA in different rat tissues
-
Srivastava G., et al. Regulation of 5-aminolevulinate synthase mRNA in different rat tissues. J. Biol. Chem. 263 11 (1988) 5202-5209
-
(1988)
J. Biol. Chem.
, vol.263
, Issue.11
, pp. 5202-5209
-
-
Srivastava, G.1
-
11
-
-
0030685130
-
Transcriptional regulation of the human erythroid 5-aminolevulinate synthase gene. Identification of promoter elements and role of regulatory proteins
-
Surinya K.H., Cox T.C., and May B.K. Transcriptional regulation of the human erythroid 5-aminolevulinate synthase gene. Identification of promoter elements and role of regulatory proteins. J. Biol. Chem. 272 42 (1997) 26585-26594
-
(1997)
J. Biol. Chem.
, vol.272
, Issue.42
, pp. 26585-26594
-
-
Surinya, K.H.1
Cox, T.C.2
May, B.K.3
-
12
-
-
0034671766
-
Regulation of heme metabolism in rat hepatocytes and hepatocyte cell lines: delta-aminolevulinic acid synthase and heme oxygenase are regulated by different heme-dependent mechanisms
-
Cable E.E., Miller T.G., and Isom H.C. Regulation of heme metabolism in rat hepatocytes and hepatocyte cell lines: delta-aminolevulinic acid synthase and heme oxygenase are regulated by different heme-dependent mechanisms. Arch. Biochem. Biophys. 384 2 (2000) 280-295
-
(2000)
Arch. Biochem. Biophys.
, vol.384
, Issue.2
, pp. 280-295
-
-
Cable, E.E.1
Miller, T.G.2
Isom, H.C.3
-
13
-
-
13844278193
-
An alternatively-spliced exon in the 5′-UTR of human ALAS1 mRNA inhibits translation and renders it resistant to haem-mediated decay
-
Roberts A.G., Redding S.J., and Llewellyn D.H. An alternatively-spliced exon in the 5′-UTR of human ALAS1 mRNA inhibits translation and renders it resistant to haem-mediated decay. FEBS Lett. 579 5 (2005) 1061-1066
-
(2005)
FEBS Lett.
, vol.579
, Issue.5
, pp. 1061-1066
-
-
Roberts, A.G.1
Redding, S.J.2
Llewellyn, D.H.3
-
14
-
-
23944476164
-
Nutritional regulation of hepatic heme biosynthesis and porphyria through PGC-1alpha
-
Handschin C., et al. Nutritional regulation of hepatic heme biosynthesis and porphyria through PGC-1alpha. Cell 122 4 (2005) 505-515
-
(2005)
Cell
, vol.122
, Issue.4
, pp. 505-515
-
-
Handschin, C.1
-
15
-
-
0033538473
-
Mechanisms controlling mitochondrial biogenesis and respiration through the thermogenic coactivator PGC-1
-
Wu Z., et al. Mechanisms controlling mitochondrial biogenesis and respiration through the thermogenic coactivator PGC-1. Cell 98 1 (1999) 115-124
-
(1999)
Cell
, vol.98
, Issue.1
, pp. 115-124
-
-
Wu, Z.1
-
16
-
-
0028011017
-
Activation of the human mitochondrial transcription factor A gene by nuclear respiratory factors: a potential regulatory link between nuclear and mitochondrial gene expression in organelle biogenesis
-
Virbasius J.V., and Scarpulla R.C. Activation of the human mitochondrial transcription factor A gene by nuclear respiratory factors: a potential regulatory link between nuclear and mitochondrial gene expression in organelle biogenesis. Proc. Natl. Acad. Sci. U. S. A. 91 4 (1994) 1309-1313
-
(1994)
Proc. Natl. Acad. Sci. U. S. A.
, vol.91
, Issue.4
, pp. 1309-1313
-
-
Virbasius, J.V.1
Scarpulla, R.C.2
-
17
-
-
3142543332
-
Hepatic nuclear factor 3 and nuclear factor 1 regulate 5-aminolevulinate synthase gene expression and are involved in insulin repression
-
Scassa M.E., et al. Hepatic nuclear factor 3 and nuclear factor 1 regulate 5-aminolevulinate synthase gene expression and are involved in insulin repression. J. Biol. Chem. 279 27 (2004) 28082-28092
-
(2004)
J. Biol. Chem.
, vol.279
, Issue.27
, pp. 28082-28092
-
-
Scassa, M.E.1
-
18
-
-
0035842403
-
Phosphatidylinositol 3-kinase and Ras/mitogen-activated protein kinase signaling pathways are required for the regulation of 5-aminolevulinate synthase gene expression by insulin
-
Scassa M.E., et al. Phosphatidylinositol 3-kinase and Ras/mitogen-activated protein kinase signaling pathways are required for the regulation of 5-aminolevulinate synthase gene expression by insulin. Exp. Cell Res. 271 2 (2001) 201-213
-
(2001)
Exp. Cell Res.
, vol.271
, Issue.2
, pp. 201-213
-
-
Scassa, M.E.1
-
19
-
-
14844362079
-
Recommendations for the diagnosis and treatment of the acute porphyrias
-
Anderson K.E., et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann. Intern. Med. 142 6 (2005) 439-450
-
(2005)
Ann. Intern. Med.
, vol.142
, Issue.6
, pp. 439-450
-
-
Anderson, K.E.1
-
20
-
-
27144439097
-
Fast track to the porphyrias
-
Phillips J.D., and Kushner J.P. Fast track to the porphyrias. Nat. Med. 11 10 (2005) 1049-1050
-
(2005)
Nat. Med.
, vol.11
, Issue.10
, pp. 1049-1050
-
-
Phillips, J.D.1
Kushner, J.P.2
-
21
-
-
23944500052
-
Deficiency of glutaredoxin 5 reveals Fe-S clusters are required for vertebrate haem synthesis
-
Wingert R.A., et al. Deficiency of glutaredoxin 5 reveals Fe-S clusters are required for vertebrate haem synthesis. Nature 436 7053 (2005) 1035-1039
-
(2005)
Nature
, vol.436
, Issue.7053
, pp. 1035-1039
-
-
Wingert, R.A.1
-
22
-
-
14944387002
-
Iron trafficking in the mitochondrion: novel pathways revealed by disease
-
%R 10.1182/blood-2004-10-3856
-
Napier I., Ponka P., and Richardson D.R. Iron trafficking in the mitochondrion: novel pathways revealed by disease. Blood 105 5 (2005) 1867-1874 %R 10.1182/blood-2004-10-3856
-
(2005)
Blood
, vol.105
, Issue.5
, pp. 1867-1874
-
-
Napier, I.1
Ponka, P.2
Richardson, D.R.3
-
23
-
-
17144378216
-
Iron-sulphur cluster biogenesis and mitochondrial iron homeostasis
-
Rouault T.A., and Tong W.-H. Iron-sulphur cluster biogenesis and mitochondrial iron homeostasis. Nat. Rev., Mol. Cell Biol. 6 4 (2005) 345
-
(2005)
Nat. Rev., Mol. Cell Biol.
, vol.6
, Issue.4
, pp. 345
-
-
Rouault, T.A.1
Tong, W.-H.2
-
24
-
-
0036799489
-
The genetics of inherited sideroblastic anemias
-
Fleming M.D. The genetics of inherited sideroblastic anemias. Semin. Hematol. 39 4 (2002) 270-281
-
(2002)
Semin. Hematol.
, vol.39
, Issue.4
, pp. 270-281
-
-
Fleming, M.D.1
-
25
-
-
84964128174
-
Pyridoxine responsive anemia in the human adult
-
Harris J.W., et al. Pyridoxine responsive anemia in the human adult. Proc. Soc. Exp. Biol. Med. 91 3 (1956) 427-432
-
(1956)
Proc. Soc. Exp. Biol. Med.
, vol.91
, Issue.3
, pp. 427-432
-
-
Harris, J.W.1
-
26
-
-
0033528697
-
X-ray structure of 5-aminolevulinic acid dehydratase from Escherichia coli complexed with the inhibitor levulinic acid at 2.0 A resolution
-
Erskine P.T., 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 38 14 (1999) 4266-4276
-
(1999)
Biochemistry
, vol.38
, Issue.14
, pp. 4266-4276
-
-
Erskine, P.T.1
-
27
-
-
0033546125
-
High resolution crystal structure of a Mg2+-dependent porphobilinogen synthase
-
Frankenberg N., et al. High resolution crystal structure of a Mg2+-dependent porphobilinogen synthase. J. Mol. Biol. 289 3 (1999) 591-602
-
(1999)
J. Mol. Biol.
, vol.289
, Issue.3
, pp. 591-602
-
-
Frankenberg, N.1
-
28
-
-
0018581777
-
Purification and properties of delta-aminolevulinate dehydrase from human erythrocytes
-
Anderson P.M., and Desnick R.J. Purification and properties of delta-aminolevulinate dehydrase from human erythrocytes. J. Biol. Chem. 254 15 (1979) 6924-6930
-
(1979)
J. Biol. Chem.
, vol.254
, Issue.15
, pp. 6924-6930
-
-
Anderson, P.M.1
Desnick, R.J.2
-
29
-
-
0019320820
-
Mechanism of porphobilinogen synthase. Requirement of Zn2+ for enzyme activity
-
Bevan D.R., Bodlaender P., and Shemin D. Mechanism of porphobilinogen synthase. Requirement of Zn2+ for enzyme activity. J. Biol. Chem. 255 5 (1980) 2030-2035
-
(1980)
J. Biol. Chem.
, vol.255
, Issue.5
, pp. 2030-2035
-
-
Bevan, D.R.1
Bodlaender, P.2
Shemin, D.3
-
30
-
-
0025171361
-
Two different zinc sites in bovine 5-aminolevulinate dehydratase distinguished by extended X-ray absorption fine structure
-
Dent A.J., et al. Two different zinc sites in bovine 5-aminolevulinate dehydratase distinguished by extended X-ray absorption fine structure. Biochemistry 29 34 (1990) 7822-7828
-
(1990)
Biochemistry
, vol.29
, Issue.34
, pp. 7822-7828
-
-
Dent, A.J.1
-
31
-
-
0026762499
-
5-Chlorolevulinate modification of porphobilinogen synthase identifies a potential role for the catalytic zinc
-
Jaffe E.K., et al. 5-Chlorolevulinate modification of porphobilinogen synthase identifies a potential role for the catalytic zinc. Biochemistry 31 7 (1992) 2113-2123
-
(1992)
Biochemistry
, vol.31
, Issue.7
, pp. 2113-2123
-
-
Jaffe, E.K.1
-
32
-
-
0023221961
-
Human delta-aminolevulinate dehydratase: chromosomal localization to 9q34 by in situ hybridization
-
Potluri V.R., et al. Human delta-aminolevulinate dehydratase: chromosomal localization to 9q34 by in situ hybridization. Hum. Genet. 76 3 (1987) 236-239
-
(1987)
Hum. Genet.
, vol.76
, Issue.3
, pp. 236-239
-
-
Potluri, V.R.1
-
33
-
-
0028117335
-
Human delta-aminolevulinate dehydratase (ALAD) gene: structure and alternative splicing of the erythroid and housekeeping mRNAs
-
Kaya A.H., et al. Human delta-aminolevulinate dehydratase (ALAD) gene: structure and alternative splicing of the erythroid and housekeeping mRNAs. Genomics 19 2 (1994) 242-248
-
(1994)
Genomics
, vol.19
, Issue.2
, pp. 242-248
-
-
Kaya, A.H.1
-
35
-
-
0020681875
-
Hereditary tyrosinemia and the heme biosynthetic pathway. Profound inhibition of delta-aminolevulinic acid dehydratase activity by succinylacetone
-
Sassa S., and Kappas A. Hereditary tyrosinemia and the heme biosynthetic pathway. Profound inhibition of delta-aminolevulinic acid dehydratase activity by succinylacetone. J. Clin. Invest. 71 3 (1983) 625-634
-
(1983)
J. Clin. Invest.
, vol.71
, Issue.3
, pp. 625-634
-
-
Sassa, S.1
Kappas, A.2
-
36
-
-
84944295476
-
Liver transplantation in a boy with acute porphyria due to aminolaevulinate dehydratase deficiency
-
Thunell S., et al. Liver transplantation in a boy with acute porphyria due to aminolaevulinate dehydratase deficiency. Eur. J. Clin. Chem. Clin. Biochem. 30 10 (1992) 599-606
-
(1992)
Eur. J. Clin. Chem. Clin. Biochem.
, vol.30
, Issue.10
, pp. 599-606
-
-
Thunell, S.1
-
37
-
-
0023633591
-
delta-Aminolevulinic acid dehydratase isozymes and lead toxicity
-
Astrin K.H., et al. delta-Aminolevulinic acid dehydratase isozymes and lead toxicity. Ann. N. Y. Acad. Sci. 514 (1987) 23-29
-
(1987)
Ann. N. Y. Acad. Sci.
, vol.514
, pp. 23-29
-
-
Astrin, K.H.1
-
38
-
-
0038133353
-
Time-resolved and static-ensemble structural chemistry of hydroxymethylbilane synthase
-
(discussion 171-190)
-
Helliwell J.R., et al. Time-resolved and static-ensemble structural chemistry of hydroxymethylbilane synthase. Faraday Discuss 122 (2003) 131-144 (discussion 171-190)
-
(2003)
Faraday Discuss
, vol.122
, pp. 131-144
-
-
Helliwell, J.R.1
-
39
-
-
0038540516
-
Human porphobilinogen deaminase mutations in the investigation of the mechanism of dipyrromethane cofactor assembly and tetrapyrrole formation
-
Shoolingin-Jordan P.M., et al. Human porphobilinogen deaminase mutations in the investigation of the mechanism of dipyrromethane cofactor assembly and tetrapyrrole formation. Biochem. Soc. Trans. 31 Pt. 3 (2003) 731-735
-
(2003)
Biochem. Soc. Trans.
, vol.31
, Issue.PART 3
, pp. 731-735
-
-
Shoolingin-Jordan, P.M.1
-
40
-
-
0019788637
-
Regional gene assignment of human porphobilinogen deaminase and esterase A4 to chromosome 11q23 leads to 11qter
-
Wang A.L., et al. Regional gene assignment of human porphobilinogen deaminase and esterase A4 to chromosome 11q23 leads to 11qter. Proc. Natl. Acad. Sci. U. S. A. 78 9 (1981) 5734-5738
-
(1981)
Proc. Natl. Acad. Sci. U. S. A.
, vol.78
, Issue.9
, pp. 5734-5738
-
-
Wang, A.L.1
-
41
-
-
0000976220
-
Cis- and trans-acting elements involved in the regulation of the erythroid promoter of the human porphobilinogen deaminase gene
-
Mignotte V., et al. Cis- and trans-acting elements involved in the regulation of the erythroid promoter of the human porphobilinogen deaminase gene. Proc. Natl. Acad. Sci. U. S. A. 86 17 (1989) 6548-6552
-
(1989)
Proc. Natl. Acad. Sci. U. S. A.
, vol.86
, Issue.17
, pp. 6548-6552
-
-
Mignotte, V.1
-
42
-
-
0023713201
-
Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression
-
Chretien S., 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. U. S. A. 85 1 (1988) 6-10
-
(1988)
Proc. Natl. Acad. Sci. U. S. A.
, vol.85
, Issue.1
, pp. 6-10
-
-
Chretien, S.1
-
43
-
-
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 1 (1987) 105-110
-
(1987)
Eur. J. Biochem.
, vol.162
, Issue.1
, pp. 105-110
-
-
Grandchamp, B.1
-
44
-
-
19444372706
-
Molecular mechanisms of dominant expression in porphyria
-
Badminton M.N., and Elder G.H. Molecular mechanisms of dominant expression in porphyria. J. Inherit. Metab. Dis. 28 3 (2005) 277-286
-
(2005)
J. Inherit. Metab. Dis.
, vol.28
, Issue.3
, pp. 277-286
-
-
Badminton, M.N.1
Elder, G.H.2
-
45
-
-
0030799468
-
Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France
-
Nordmann Y., et al. Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France. J. Intern. Med. 242 3 (1997) 213-217
-
(1997)
J. Intern. Med.
, vol.242
, Issue.3
, pp. 213-217
-
-
Nordmann, Y.1
-
46
-
-
1542271496
-
Liver transplantation as a cure for acute intermittent porphyria
-
Soonawalla Z.F., et al. Liver transplantation as a cure for acute intermittent porphyria. Lancet 363 9410 (2004) 705-706
-
(2004)
Lancet
, vol.363
, Issue.9410
, pp. 705-706
-
-
Soonawalla, Z.F.1
-
47
-
-
0035502972
-
Crystal structure of human uroporphyrinogen III synthase
-
Mathews M.A., et al. Crystal structure of human uroporphyrinogen III synthase. EMBO J. 20 21 (2001) 5832-5839
-
(2001)
EMBO J.
, vol.20
, Issue.21
, pp. 5832-5839
-
-
Mathews, M.A.1
-
48
-
-
0034548040
-
Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression
-
Aizencang G., et al. Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression. Genomics 70 2 (2000) 223-231
-
(2000)
Genomics
, vol.70
, Issue.2
, pp. 223-231
-
-
Aizencang, G.1
-
49
-
-
0025894182
-
Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2-q26.3
-
Astrin K.H., et al. Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2-q26.3. Hum. Genet. 87 1 (1991) 18-22
-
(1991)
Hum. Genet.
, vol.87
, Issue.1
, pp. 18-22
-
-
Astrin, K.H.1
-
50
-
-
0034723323
-
Uroporphyrinogen III synthase. An alternative promoter controls erythroid-specific expression in the murine gene
-
Aizencang G.I., et al. Uroporphyrinogen III synthase. An alternative promoter controls erythroid-specific expression in the murine gene. J. Biol. Chem. 275 4 (2000) 2295-22304
-
(2000)
J. Biol. Chem.
, vol.275
, Issue.4
, pp. 2295-22304
-
-
Aizencang, G.I.1
-
51
-
-
0036283601
-
Congenital erythropoietic porphyria: advances in pathogenesis and treatment
-
Desnick R.J., and Astrin K.H. Congenital erythropoietic porphyria: advances in pathogenesis and treatment. Br. J. Haematol. 117 4 (2002) 779-795
-
(2002)
Br. J. Haematol.
, vol.117
, Issue.4
, pp. 779-795
-
-
Desnick, R.J.1
Astrin, K.H.2
-
52
-
-
0031952970
-
Molecular genetics of congenital erythropoietic porphyria
-
Desnick R.J., et al. Molecular genetics of congenital erythropoietic porphyria. Semin. Liver Dis. 18 1 (1998) 77-84
-
(1998)
Semin. Liver Dis.
, vol.18
, Issue.1
, pp. 77-84
-
-
Desnick, R.J.1
-
53
-
-
33746862841
-
Congenital erythropoietic porphyria, b-thalassemia intermedia and thrombocytopenia due to a GATA1 mutation
-
Phillips J.D., et al. Congenital erythropoietic porphyria, b-thalassemia intermedia and thrombocytopenia due to a GATA1 mutation. Blood 106 (2005) 154a
-
(2005)
Blood
, vol.106
-
-
Phillips, J.D.1
-
54
-
-
0020529536
-
Purification and characterization of bovine hepatic uroporphyrinogen decarboxylase
-
Straka J.G., and Kushner J.P. Purification and characterization of bovine hepatic uroporphyrinogen decarboxylase. Biochemistry 22 20 (1983) 4664-4672
-
(1983)
Biochemistry
, vol.22
, Issue.20
, pp. 4664-4672
-
-
Straka, J.G.1
Kushner, J.P.2
-
55
-
-
0018644256
-
Decarboxylation of porphyrinogens by rat liver uroporphyrinogen decarboxylase
-
Smith A.G., and Francis J.E. Decarboxylation of porphyrinogens by rat liver uroporphyrinogen decarboxylase. Biochem. J. 183 2 (1979) 455-458
-
(1979)
Biochem. J.
, vol.183
, Issue.2
, pp. 455-458
-
-
Smith, A.G.1
Francis, J.E.2
-
56
-
-
0032079342
-
Crystal structure of human uroporphyrinogen decarboxylase
-
Whitby F.G. Crystal structure of human uroporphyrinogen decarboxylase. EMBO J. 17 9 (1998) 2463-2471
-
(1998)
EMBO J.
, vol.17
, Issue.9
, pp. 2463-2471
-
-
Whitby, F.G.1
-
57
-
-
0347504852
-
Structural basis for tetrapyrrole coordination by uroporphyrinogen decarboxylase
-
Phillips J.D., et al. Structural basis for tetrapyrrole coordination by uroporphyrinogen decarboxylase. EMBO J. 22 23 (2003) 6225-6233
-
(2003)
EMBO J.
, vol.22
, Issue.23
, pp. 6225-6233
-
-
Phillips, J.D.1
-
58
-
-
0021321665
-
Assignment of the gene for uroporphyrinogen decarboxylase to human chromosome 1 by somatic cell hybridization and specific enzyme immunoassay
-
de Verneuil H., et al. Assignment of the gene for uroporphyrinogen decarboxylase to human chromosome 1 by somatic cell hybridization and specific enzyme immunoassay. Hum. Genet. 66 2-3 (1984) 202-205
-
(1984)
Hum. Genet.
, vol.66
, Issue.2-3
, pp. 202-205
-
-
de Verneuil, H.1
-
59
-
-
0022515699
-
Assignment of human uroporphyrinogen decarboxylase (URO-D) to the p34 band of chromosome 1
-
Dubart A., et al. Assignment of human uroporphyrinogen decarboxylase (URO-D) to the p34 band of chromosome 1. Hum. Genet. 73 3 (1986) 277-279
-
(1986)
Hum. Genet.
, vol.73
, Issue.3
, pp. 277-279
-
-
Dubart, A.1
-
60
-
-
0023640365
-
Structure of the gene for human uroporphyrinogen decarboxylase
-
Romana M., et al. Structure of the gene for human uroporphyrinogen decarboxylase. Nucleic Acids Res. 15 18 (1987) 7343-7356
-
(1987)
Nucleic Acids Res.
, vol.15
, Issue.18
, pp. 7343-7356
-
-
Romana, M.1
-
61
-
-
0023025858
-
Molecular cloning and nucleotide sequence of a complete human uroporphyrinogen decarboxylase cDNA
-
Romeo P.H., Raich N., Dubart A., Beaupain D., Pryor M., Kushner J., Cohen-Solal M., and Goosens M. Molecular cloning and nucleotide sequence of a complete human uroporphyrinogen decarboxylase cDNA. J. Biol. Chem. 261 (1986) 9825-9831
-
(1986)
J. Biol. Chem.
, vol.261
, pp. 9825-9831
-
-
Romeo, P.H.1
Raich, N.2
Dubart, A.3
Beaupain, D.4
Pryor, M.5
Kushner, J.6
Cohen-Solal, M.7
Goosens, M.8
-
62
-
-
0032030887
-
Genetic defects in the porphyrias: types and significance
-
Elder G.H. Genetic defects in the porphyrias: types and significance. Clin. Dermatol. 16 2 (1998) 225-233
-
(1998)
Clin. Dermatol.
, vol.16
, Issue.2
, pp. 225-233
-
-
Elder, G.H.1
-
63
-
-
0031599775
-
Mutations in the hemochromatosis gene, porphyria cutanea tarda, and iron overload
-
Elder G.H., and Worwood M. Mutations in the hemochromatosis gene, porphyria cutanea tarda, and iron overload. Hepatology 27 1 (1998) 289-291
-
(1998)
Hepatology
, vol.27
, Issue.1
, pp. 289-291
-
-
Elder, G.H.1
Worwood, M.2
-
64
-
-
0036787525
-
Uroporphyria in the uroporphyrinogen decarboxylase-deficient mouse: interplay with siderosis and polychlorinated biphenyl exposure
-
Franklin M.R., Phillips J.D., and Kushner J.P. Uroporphyria in the uroporphyrinogen decarboxylase-deficient mouse: interplay with siderosis and polychlorinated biphenyl exposure. Hepatology 36 4 Pt. 1 (2002) 805-811
-
(2002)
Hepatology
, vol.36
, Issue.4 PART 1
, pp. 805-811
-
-
Franklin, M.R.1
Phillips, J.D.2
Kushner, J.P.3
-
65
-
-
0035179045
-
Accelerated development of uroporphyria in mice heterozygous for a deletion at the uroporphyrinogen decarboxylase locus
-
Franklin M.R., Phillips J.D., and Kushner J.P. Accelerated development of uroporphyria in mice heterozygous for a deletion at the uroporphyrinogen decarboxylase locus. J. Biochem. Mol. Toxicol. 15 5 (2001) 287-293
-
(2001)
J. Biochem. Mol. Toxicol.
, vol.15
, Issue.5
, pp. 287-293
-
-
Franklin, M.R.1
Phillips, J.D.2
Kushner, J.P.3
-
66
-
-
0035793053
-
A mouse model of familial porphyria cutanea tarda
-
Phillips J.D., et al. A mouse model of familial porphyria cutanea tarda. Proc. Natl. Acad. Sci. U. S. A. 98 1 (2001) 259-264
-
(2001)
Proc. Natl. Acad. Sci. U. S. A.
, vol.98
, Issue.1
, pp. 259-264
-
-
Phillips, J.D.1
-
67
-
-
0027181222
-
Analysis of uroporphyrinogen decarboxylase complementary DNAs in sporadic porphyria cutanea tarda
-
Garey J.R., et al. Analysis of uroporphyrinogen decarboxylase complementary DNAs in sporadic porphyria cutanea tarda. Gastroenterology 105 1 (1993) 165-169
-
(1993)
Gastroenterology
, vol.105
, Issue.1
, pp. 165-169
-
-
Garey, J.R.1
-
68
-
-
0017603014
-
Hepatic siderosis and porphyria cutanea tarda: relation of iron excess to the metabolic defect
-
Felsher B.F., and Kushner J.P. Hepatic siderosis and porphyria cutanea tarda: relation of iron excess to the metabolic defect. Semin. Hematol. 14 2 (1977) 243-251
-
(1977)
Semin. Hematol.
, vol.14
, Issue.2
, pp. 243-251
-
-
Felsher, B.F.1
Kushner, J.P.2
-
69
-
-
0034161367
-
Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda
-
Bulaj Z.J., et al. Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda. Blood 95 5 (2000) 1565-1571
-
(2000)
Blood
, vol.95
, Issue.5
, pp. 1565-1571
-
-
Bulaj, Z.J.1
-
70
-
-
0019332546
-
Coproporphyrinogen oxidase: II. Reaction mechanism and role of tyrosine residues on the activity
-
Yoshinaga T., and Sano S. Coproporphyrinogen oxidase: II. Reaction mechanism and role of tyrosine residues on the activity. J. Biol. Chem. 255 10 (1980) 4727-4731
-
(1980)
J. Biol. Chem.
, vol.255
, Issue.10
, pp. 4727-4731
-
-
Yoshinaga, T.1
Sano, S.2
-
71
-
-
26444584539
-
Structural basis of hereditary coproporphyria
-
Lee D.S., et al. Structural basis of hereditary coproporphyria. Proc. Natl. Acad. Sci. U. S. A. 102 40 (2005) 14232-14237
-
(2005)
Proc. Natl. Acad. Sci. U. S. A.
, vol.102
, Issue.40
, pp. 14232-14237
-
-
Lee, D.S.1
-
72
-
-
0028987664
-
Involvement of peripheral-type benzodiazepine receptors in the intracellular transport of heme and porphyrins
-
Taketani S., et al. Involvement of peripheral-type benzodiazepine receptors in the intracellular transport of heme and porphyrins. J. Biochem. (Tokyo) 117 4 (1995) 875-880
-
(1995)
J. Biochem. (Tokyo)
, vol.117
, Issue.4
, pp. 875-880
-
-
Taketani, S.1
-
73
-
-
0003644150
-
Human coproporphyrinogen oxidase. Biochemical characterization of recombinant normal and R231W mutated enzymes expressed in E. coli as soluble, catalytically active homodimers
-
Martasek P., et al. Human coproporphyrinogen oxidase. Biochemical characterization of recombinant normal and R231W mutated enzymes expressed in E. coli as soluble, catalytically active homodimers. Cell Mol. Biol. (Noisy-le-grand) 43 1 (1997) 47-58
-
(1997)
Cell Mol. Biol. (Noisy-le-grand)
, vol.43
, Issue.1
, pp. 47-58
-
-
Martasek, P.1
-
74
-
-
4644367297
-
Crystal structure of the oxygen-dependant coproporphyrinogen oxidase (Hem13p) of Saccharomyces cerevisiae
-
Phillips J.D., et al. Crystal structure of the oxygen-dependant coproporphyrinogen oxidase (Hem13p) of Saccharomyces cerevisiae. J. Biol. Chem. 279 37 (2004) 38960-38968
-
(2004)
J. Biol. Chem.
, vol.279
, Issue.37
, pp. 38960-38968
-
-
Phillips, J.D.1
-
75
-
-
0028001669
-
Localization of the human coproporphyrinogen oxidase gene to chromosome band 3q12
-
Cacheux V., et al. Localization of the human coproporphyrinogen oxidase gene to chromosome band 3q12. Hum. Genet. 94 5 (1994) 557-559
-
(1994)
Hum. Genet.
, vol.94
, Issue.5
, pp. 557-559
-
-
Cacheux, V.1
-
76
-
-
0032211177
-
Differential regulation of coproporphyrinogen oxidase gene between erythroid and nonerythroid cells
-
Takahashi S., et al. Differential regulation of coproporphyrinogen oxidase gene between erythroid and nonerythroid cells. Blood 92 9 (1998) 3436-3444
-
(1998)
Blood
, vol.92
, Issue.9
, pp. 3436-3444
-
-
Takahashi, S.1
-
77
-
-
0033873204
-
Cloning of a coproporphyrinogen oxidase promoter regulatory element binding protein
-
Takahashi S., et al. Cloning of a coproporphyrinogen oxidase promoter regulatory element binding protein. Biochem. Biophys. Res. Commun. 273 2 (2000) 596-602
-
(2000)
Biochem. Biophys. Res. Commun.
, vol.273
, Issue.2
, pp. 596-602
-
-
Takahashi, S.1
-
78
-
-
0028927998
-
A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria
-
Lamoril J., et al. A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria. Hum. Mol. Genet. 4 2 (1995) 275-278
-
(1995)
Hum. Mol. Genet.
, vol.4
, Issue.2
, pp. 275-278
-
-
Lamoril, J.1
-
79
-
-
0028347291
-
Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms
-
Martasek P., Nordmann Y., and Grandchamp B. Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms. Hum. Mol. Genet. 3 3 (1994) 477-480
-
(1994)
Hum. Mol. Genet.
, vol.3
, Issue.3
, pp. 477-480
-
-
Martasek, P.1
Nordmann, Y.2
Grandchamp, B.3
-
80
-
-
2442563409
-
Crystal structure of protoporphyrinogen IX oxidase: a key enzyme in haem and chlorophyll biosynthesis
-
Koch M., et al. Crystal structure of protoporphyrinogen IX oxidase: a key enzyme in haem and chlorophyll biosynthesis. EMBO J. 23 8 (2004) 1720-1728
-
(2004)
EMBO J.
, vol.23
, Issue.8
, pp. 1720-1728
-
-
Koch, M.1
-
81
-
-
0942268730
-
Identification of sequences required for the import of human protoporphyrinogen oxidase to mitochondria
-
Morgan R.R., Errington R., and Elder G.H. Identification of sequences required for the import of human protoporphyrinogen oxidase to mitochondria. Biochem. J. 377 Pt. 2 (2004) 281-287
-
(2004)
Biochem. J.
, vol.377
, Issue.PART 2
, pp. 281-287
-
-
Morgan, R.R.1
Errington, R.2
Elder, G.H.3
-
82
-
-
0028887033
-
Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23
-
Roberts A.G., et al. Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23. Hum. Mol. Genet. 4 12 (1995) 2387-2390
-
(1995)
Hum. Mol. Genet.
, vol.4
, Issue.12
, pp. 2387-2390
-
-
Roberts, A.G.1
-
83
-
-
0028863791
-
The human protoporphyrinogen oxidase gene (PPOX): organization and location to chromosome 1
-
Taketani S., et al. The human protoporphyrinogen oxidase gene (PPOX): organization and location to chromosome 1. Genomics 29 3 (1995) 698-703
-
(1995)
Genomics
, vol.29
, Issue.3
, pp. 698-703
-
-
Taketani, S.1
-
84
-
-
0029013982
-
Induction of terminal enzymes for heme biosynthesis during differentiation of mouse erythroleukemia cells
-
Taketani S., et al. Induction of terminal enzymes for heme biosynthesis during differentiation of mouse erythroleukemia cells. Eur. J. Biochem. 230 2 (1995) 760-765
-
(1995)
Eur. J. Biochem.
, vol.230
, Issue.2
, pp. 760-765
-
-
Taketani, S.1
-
85
-
-
0033361412
-
Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation
-
Whatley S.D., et al. Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation. Am. J. Hum. Genet. 65 4 (1999) 984-994
-
(1999)
Am. J. Hum. Genet.
, vol.65
, Issue.4
, pp. 984-994
-
-
Whatley, S.D.1
-
86
-
-
0030140415
-
A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria
-
Meissner P.N., et al. A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. Nat. Genet. 13 1 (1996) 95-97
-
(1996)
Nat. Genet.
, vol.13
, Issue.1
, pp. 95-97
-
-
Meissner, P.N.1
-
87
-
-
0031944103
-
Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband
-
Frank J., et al. Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband. J. Invest. Dermatol. 110 4 (1998) 452-455
-
(1998)
J. Invest. Dermatol.
, vol.110
, Issue.4
, pp. 452-455
-
-
Frank, J.1
-
88
-
-
7844239345
-
Molecular characterization of homozygous variegate porphyria
-
Roberts A.G., et al. Molecular characterization of homozygous variegate porphyria. Hum. Mol. Genet. 7 12 (1998) 1921-1925
-
(1998)
Hum. Mol. Genet.
, vol.7
, Issue.12
, pp. 1921-1925
-
-
Roberts, A.G.1
-
89
-
-
3242809783
-
Recovery from a variegate porphyria by a liver transplantation
-
Stojeba N., et al. Recovery from a variegate porphyria by a liver transplantation. Liver Transpl. 10 7 (2004) 935-938
-
(2004)
Liver Transpl.
, vol.10
, Issue.7
, pp. 935-938
-
-
Stojeba, N.1
-
90
-
-
0027175420
-
Allosteric inhibition of human lymphoblast and purified porphobilinogen deaminase by protoporphyrinogen and coproporphyrinogen. A possible mechanism for the acute attack of variegate porphyria
-
Meissner P., Adams P., and Kirsch R. Allosteric inhibition of human lymphoblast and purified porphobilinogen deaminase by protoporphyrinogen and coproporphyrinogen. A possible mechanism for the acute attack of variegate porphyria. J. Clin. Invest. 91 4 (1993) 1436-1444
-
(1993)
J. Clin. Invest.
, vol.91
, Issue.4
, pp. 1436-1444
-
-
Meissner, P.1
Adams, P.2
Kirsch, R.3
-
91
-
-
0034746571
-
The 2.0 A structure of human ferrochelatase, the terminal enzyme of heme biosynthesis
-
Wu C.K., et al. The 2.0 A structure of human ferrochelatase, the terminal enzyme of heme biosynthesis. Nat. Struct. Biol. 8 2 (2001) 156-160
-
(2001)
Nat. Struct. Biol.
, vol.8
, Issue.2
, pp. 156-160
-
-
Wu, C.K.1
-
92
-
-
0027161470
-
In situ conversion of coproporphyrinogen to heme by murine mitochondria: terminal steps of the heme biosynthetic pathway
-
Proulx K.L., Woodard S.I., and Dailey H.A. In situ conversion of coproporphyrinogen to heme by murine mitochondria: terminal steps of the heme biosynthetic pathway. Protein Sci. 2 7 (1993) 1092-1098
-
(1993)
Protein Sci.
, vol.2
, Issue.7
, pp. 1092-1098
-
-
Proulx, K.L.1
Woodard, S.I.2
Dailey, H.A.3
-
93
-
-
0032725555
-
Human ferrochelatase: crystallization, characterization of the [2Fe-2S] cluster and determination that the enzyme is a homodimer
-
Burden A.E., et al. Human ferrochelatase: crystallization, characterization of the [2Fe-2S] cluster and determination that the enzyme is a homodimer. Biochim. Biophys. Acta 1435 1-2 (1999) 191-197
-
(1999)
Biochim. Biophys. Acta
, vol.1435
, Issue.1-2
, pp. 191-197
-
-
Burden, A.E.1
-
94
-
-
0026331629
-
Assignment of the human ferrochelatase gene (FECH) and a locus for protoporphyria to chromosome 18q22
-
Whitcombe D.M., et al. Assignment of the human ferrochelatase gene (FECH) and a locus for protoporphyria to chromosome 18q22. Genomics 11 4 (1991) 1152-1154
-
(1991)
Genomics
, vol.11
, Issue.4
, pp. 1152-1154
-
-
Whitcombe, D.M.1
-
95
-
-
0026576256
-
Structure of the human ferrochelatase gene. Exon/intron gene organization and location of the gene to chromosome 18
-
Taketani S., et al. Structure of the human ferrochelatase gene. Exon/intron gene organization and location of the gene to chromosome 18. Eur. J. Biochem. 205 1 (1992) 217-222
-
(1992)
Eur. J. Biochem.
, vol.205
, Issue.1
, pp. 217-222
-
-
Taketani, S.1
-
96
-
-
0028034531
-
A single promoter directs both housekeeping and erythroid preferential expression of the human ferrochelatase gene
-
Tugores A., Magness S.T., and Brenner D.A. A single promoter directs both housekeeping and erythroid preferential expression of the human ferrochelatase gene. J. Biol. Chem. 269 49 (1994) 30789-30797
-
(1994)
J. Biol. Chem.
, vol.269
, Issue.49
, pp. 30789-30797
-
-
Tugores, A.1
Magness, S.T.2
Brenner, D.A.3
-
97
-
-
0032126635
-
Analysis of the human ferrochelatase promoter in transgenic mice
-
Magness S.T., et al. Analysis of the human ferrochelatase promoter in transgenic mice. Blood 92 1 (1998) 320-328
-
(1998)
Blood
, vol.92
, Issue.1
, pp. 320-328
-
-
Magness, S.T.1
-
98
-
-
0023677784
-
The synthesis of murine ferrochelatase in vitro and in vivo
-
Karr S.R., and Dailey H.A. The synthesis of murine ferrochelatase in vitro and in vivo. Biochem. J. 254 3 (1988) 799-803
-
(1988)
Biochem. J.
, vol.254
, Issue.3
, pp. 799-803
-
-
Karr, S.R.1
Dailey, H.A.2
-
99
-
-
0033862936
-
Regulation of the expression of human ferrochelatase by intracellular iron levels
-
Taketani S., Adachi Y., and Nakahashi Y. Regulation of the expression of human ferrochelatase by intracellular iron levels. Eur. J. Biochem. 267 15 (2000) 4685-4692
-
(2000)
Eur. J. Biochem.
, vol.267
, Issue.15
, pp. 4685-4692
-
-
Taketani, S.1
Adachi, Y.2
Nakahashi, Y.3
-
100
-
-
4143075772
-
Regulation of ferrochelatase gene expression by hypoxia
-
Liu Y.L., et al. Regulation of ferrochelatase gene expression by hypoxia. Life Sci. 75 17 (2004) 2035-2043
-
(2004)
Life Sci.
, vol.75
, Issue.17
, pp. 2035-2043
-
-
Liu, Y.L.1
-
101
-
-
0021615176
-
Genetic aspects of erythropoietic protoporphyria
-
Went L.N., and Klasen E.C. Genetic aspects of erythropoietic protoporphyria. Ann. Hum. Genet. 48 Pt. 2 (1984) 105-117
-
(1984)
Ann. Hum. Genet.
, vol.48
, Issue.PART 2
, pp. 105-117
-
-
Went, L.N.1
Klasen, E.C.2
-
102
-
-
0030067853
-
Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele
-
Gouya L., et al. Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele. Am. J. Hum. Genet. 58 2 (1996) 292-299
-
(1996)
Am. J. Hum. Genet.
, vol.58
, Issue.2
, pp. 292-299
-
-
Gouya, L.1
-
103
-
-
0033560096
-
Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation
-
Gouya L., et al. Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation. Blood 93 6 (1999) 2105-2110
-
(1999)
Blood
, vol.93
, Issue.6
, pp. 2105-2110
-
-
Gouya, L.1
-
104
-
-
0023902682
-
The liver in protoporphyria
-
Bloomer J.R. The liver in protoporphyria. Hepatology 8 2 (1988) 402-407
-
(1988)
Hepatology
, vol.8
, Issue.2
, pp. 402-407
-
-
Bloomer, J.R.1
-
105
-
-
30444434611
-
Liver transplantation for erythropoietic protoporphyria liver disease
-
McGuire B.M., et al. Liver transplantation for erythropoietic protoporphyria liver disease. Liver Transpl. 11 12 (2005) 1590-1596
-
(2005)
Liver Transpl.
, vol.11
, Issue.12
, pp. 1590-1596
-
-
McGuire, B.M.1
-
106
-
-
0036622095
-
Erythropoietic protoporphyria: altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations
-
Poh-Fitzpatrick M.B., et al. Erythropoietic protoporphyria: altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations. J. Am. Acad. Dermatol. 46 6 (2002) 861-866
-
(2002)
J. Am. Acad. Dermatol.
, vol.46
, Issue.6
, pp. 861-866
-
-
Poh-Fitzpatrick, M.B.1
-
107
-
-
30144434692
-
Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells
-
Goodwin R.G., et al. Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells. Blood 107 1 (2006) 60-62
-
(2006)
Blood
, vol.107
, Issue.1
, pp. 60-62
-
-
Goodwin, R.G.1
|