-
1
-
-
0023902682
-
The liver in protoporphyria
-
Bloomer JR (1988) The liver in protoporphyria. Hepatol 8:402-7
-
(1988)
Hepatol
, vol.8
, pp. 402-407
-
-
Bloomer, J.R.1
-
2
-
-
0032725555
-
Human ferrochelatase: Crystallization, characterization of the [2Fe-2S] cluster and determination that the enzyme is a homodimer
-
Burden AE, Wu C, Dailey TA, Busch JL, Dhawan IK, Rose JP et al. (1999) Human ferrochelatase: crystallization, characterization of the [2Fe-2S] cluster and determination that the enzyme is a homodimer. Biochem Biophys Acta 1435:191-7
-
(1999)
Biochem Biophys Acta
, vol.1435
, pp. 191-197
-
-
Burden, A.E.1
Wu, C.2
Dailey, T.A.3
Busch, J.L.4
Dhawan, I.K.5
Rose, J.P.6
-
3
-
-
59949106072
-
-
Cox TM (2003) Protoporphyria. In: The Porphyrin Handbook, 14, Medical Aspects of Porphyries (Kadish KM, Smith KM, Guilard R, eds), Academic Press: Amsterdam, 121-50
-
Cox TM (2003) Protoporphyria. In: The Porphyrin Handbook, vol. 14, Medical Aspects of Porphyries (Kadish KM, Smith KM, Guilard R, eds), Academic Press: Amsterdam, 121-50
-
-
-
-
4
-
-
0035406122
-
Front line tests for the investigation of suspected porphyria
-
Deacon AC, Elder GH (2001) Front line tests for the investigation of suspected porphyria. J Clin Pathol 54:500-7
-
(2001)
J Clin Pathol
, vol.54
, pp. 500-507
-
-
Deacon, A.C.1
Elder, G.H.2
-
6
-
-
0030904874
-
Hepatic porphyrias in children
-
Elder GH (1997) Hepatic porphyrias in children. J Inherit Metab Dis 20:237-46
-
(1997)
J Inherit Metab Dis
, vol.20
, pp. 237-246
-
-
Elder, G.H.1
-
7
-
-
0028045004
-
The dominant form of hereditary palmoplantar keratoderma in the northernmost county of Sweden (Norrbotten)
-
Gamborg Nielsen P, Hofer PA, Lagerholm B (1994) The dominant form of hereditary palmoplantar keratoderma in the northernmost county of Sweden (Norrbotten). Dermatology 188:188-93
-
(1994)
Dermatology
, vol.188
, pp. 188-193
-
-
Gamborg Nielsen, P.1
Hofer, P.A.2
Lagerholm, B.3
-
8
-
-
29244454253
-
Contribution of a single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria
-
Gouya L, Martin-Schmitt C, Robreau A-M, Austerlitz F, Da Silva V, Brun P et al. (2006) Contribution of a single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Genet 78:2-14
-
(2006)
Am J Hum Genet
, vol.78
, pp. 2-14
-
-
Gouya, L.1
Martin-Schmitt, C.2
Robreau, A.-M.3
Austerlitz, F.4
Da Silva, V.5
Brun, P.6
-
9
-
-
0036337671
-
The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH
-
Gouya L, Puy H, Robreau AM, Bourgeois M, Lamoril J, Da Silva V et al. (2002) The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. Nat Genet 30:27-8
-
(2002)
Nat Genet
, vol.30
, pp. 27-28
-
-
Gouya, L.1
Puy, H.2
Robreau, A.M.3
Bourgeois, M.4
Lamoril, J.5
Da Silva, V.6
-
10
-
-
6844254571
-
Hereditary palmoplantar keratodermas in South India
-
Gulati S, Thappa DM, Garg BR (1997) Hereditary palmoplantar keratodermas in South India. J Dermatol 24:765-8
-
(1997)
J Dermatol
, vol.24
, pp. 765-768
-
-
Gulati, S.1
Thappa, D.M.2
Garg, B.R.3
-
11
-
-
34548837512
-
Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease
-
Herrero C, To-Figueras J, Badenas C, Méndez M, Serrano P, Enríquez-Salamanca R et al. (2007) Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease. Arch Dermatol 143:1125-1129
-
(2007)
Arch Dermatol
, vol.143
, pp. 1125-1129
-
-
Herrero, C.1
To-Figueras, J.2
Badenas, C.3
Méndez, M.4
Serrano, P.5
Enríquez-Salamanca, R.6
-
12
-
-
33747033382
-
Erythropoietic protoporphyria in the United Kingdom: Clinical features and effect on quality of life
-
Holme SA, Anstey AV, Finlay AY, Elder GH, Badminton MN (2006) Erythropoietic protoporphyria in the United Kingdom: clinical features and effect on quality of life. Br J Dermatol 155:574-81
-
(2006)
Br J Dermatol
, vol.155
, pp. 574-581
-
-
Holme, S.A.1
Anstey, A.V.2
Finlay, A.Y.3
Elder, G.H.4
Badminton, M.N.5
-
14
-
-
0026338563
-
Human erythropoietic protoporphyria: Two point mutations in the ferrochelatase gene
-
Lamoril J, Boulechfar S, de Verneuil H, Grandchamp B, Nordmann Y, Deybach J-C (1991) Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene. Biochem Biophys Res Commun 181:594-9
-
(1991)
Biochem Biophys Res Commun
, vol.181
, pp. 594-599
-
-
Lamoril, J.1
Boulechfar, S.2
de Verneuil, H.3
Grandchamp, B.4
Nordmann, Y.5
Deybach, J.-C.6
-
15
-
-
30444434611
-
Liver transplantation for erythropoietic protoporphyria liver disease
-
McGuire BM, Bonkovsky HL, Carithers RL Jr, Chung RT, Goldstein LI, Lake JR et al. (2005) Liver transplantation for erythropoietic protoporphyria liver disease. Liver Transpl 11:1590-6
-
(2005)
Liver Transpl
, vol.11
, pp. 1590-1596
-
-
McGuire, B.M.1
Bonkovsky, H.L.2
Carithers Jr, R.L.3
Chung, R.T.4
Goldstein, L.I.5
Lake, J.R.6
-
16
-
-
0034351813
-
Erythropoietic protoporphyria. An overview with emphasis on the liver
-
Meerman L (2000) Erythropoietic protoporphyria. An overview with emphasis on the liver. Scand J Gastroenterol 35(Suppl 232):79-85
-
(2000)
Scand J Gastroenterol
, vol.35
, Issue.SUPPL. 232
, pp. 79-85
-
-
Meerman, L.1
-
18
-
-
0036622095
-
Erythropoietic protoporphyria: Altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations
-
Poh-Fitzpatrick MB, Wang X, Anderson KE, Bloomer JR, Bolwell B, Lichtin AE (2002) Erythropoietic protoporphyria: altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations. J Am Acad Dermatol 46:861-6
-
(2002)
J Am Acad Dermatol
, vol.46
, pp. 861-866
-
-
Poh-Fitzpatrick, M.B.1
Wang, X.2
Anderson, K.E.3
Bloomer, J.R.4
Bolwell, B.5
Lichtin, A.E.6
-
19
-
-
0028230273
-
Molecular characterization of a ferrochelatase gene defect causing anomalous RNA splicing in erythropoietic protoporphyria
-
Sarkany RP, Whitcombe DM, Cox TM (1994b) Molecular characterization of a ferrochelatase gene defect causing anomalous RNA splicing in erythropoietic protoporphyria. J Invest Dermatol 102:481-4
-
(1994)
J Invest Dermatol
, vol.102
, pp. 481-484
-
-
Sarkany, R.P.1
Whitcombe, D.M.2
Cox, T.M.3
-
20
-
-
0028290552
-
Recessive inheritance of erythropoietic protoporphyria with liver failure
-
Sarkany RPE, Alexander GJMA, Cox TM (1994a) Recessive inheritance of erythropoietic protoporphyria with liver failure. Lancet 343:1394-6
-
(1994)
Lancet
, vol.343
, pp. 1394-1396
-
-
Sarkany, R.P.E.1
Alexander, G.J.M.A.2
Cox, T.M.3
-
21
-
-
0016350370
-
Erythropoietic protoporphyria: A clinical study based on 29 cases in 14 families
-
Schmidt H, Snitker G, Thomsen K, Lintrup J (1974) Erythropoietic protoporphyria: a clinical study based on 29 cases in 14 families. Arch Dermatol 110:58-64
-
(1974)
Arch Dermatol
, vol.110
, pp. 58-64
-
-
Schmidt, H.1
Snitker, G.2
Thomsen, K.3
Lintrup, J.4
-
22
-
-
0028149374
-
Erythropoietic protoporphyria
-
Todd DJ (1994) Erythropoietic protoporphyria. Br J Dermatol 131:751-66
-
(1994)
Br J Dermatol
, vol.131
, pp. 751-766
-
-
Todd, D.J.1
-
23
-
-
16544379257
-
Autosomal recessive erythropoietic protoporphyria in the United Kingdom: Prevalence and relationship to liver disease
-
Whatley SD, Mason NG, Khan M, Zamiri M, Badminton MN, Missaoui WN et al. (2004) Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease. J Med Genet 41:e105
-
(2004)
J Med Genet
, vol.41
-
-
Whatley, S.D.1
Mason, N.G.2
Khan, M.3
Zamiri, M.4
Badminton, M.N.5
Missaoui, W.N.6
-
25
-
-
0034746571
-
The 2.0 A structure of human ferrochelatase, the terminal enzyme of heme biosynthesis
-
Wu CK, Dailey HA, Rose JP, Burden A, Sellers VM, Wang BC (2001) The 2.0 A structure of human ferrochelatase, the terminal enzyme of heme biosynthesis. Nat Struct Biol 8:156-60
-
(2001)
Nat Struct Biol
, vol.8
, pp. 156-160
-
-
Wu, C.K.1
Dailey, H.A.2
Rose, J.P.3
Burden, A.4
Sellers, V.M.5
Wang, B.C.6
|