-
2
-
-
84924046054
-
Role of delta-aminolevulinic acid in the symptoms of acute porphyria
-
Bissell D.M., Lai J.C., Meister R.K., Blanc P.D. Role of delta-aminolevulinic acid in the symptoms of acute porphyria. Am J Med 2015, 128(3):313-317.
-
(2015)
Am J Med
, vol.128
, Issue.3
, pp. 313-317
-
-
Bissell, D.M.1
Lai, J.C.2
Meister, R.K.3
Blanc, P.D.4
-
3
-
-
77952721977
-
Structure and function of enzymes in heme biosynthesis
-
Layer G., Reichelt J., Jahn D., Heinz D.W. Structure and function of enzymes in heme biosynthesis. Protein Sci 2010, 19(6):1137-1161.
-
(2010)
Protein Sci
, vol.19
, Issue.6
, pp. 1137-1161
-
-
Layer, G.1
Reichelt, J.2
Jahn, D.3
Heinz, D.W.4
-
4
-
-
0034521694
-
Porphyrins, porphyrin metabolism and porphyrias
-
Thunell S., Harper P., Brock A., Petersen N.E. Porphyrins, porphyrin metabolism and porphyrias. Scand J Clin Lab Invest 2000, 60:541-560.
-
(2000)
Scand J Clin Lab Invest
, vol.60
, pp. 541-560
-
-
Thunell, S.1
Harper, P.2
Brock, A.3
Petersen, N.E.4
-
5
-
-
77954627973
-
Mitochondrial iron trafficking and the integration of iron metabolism between the mitochondrion and cytosol
-
Richardson D.R., Lane D.J., Becker E.M., Huang M.L., Whitnall M., Suryo RahmantoY, et al. Mitochondrial iron trafficking and the integration of iron metabolism between the mitochondrion and cytosol. Proc Natl Acad Sci U S A 2010, 107(24):10775-10782.
-
(2010)
Proc Natl Acad Sci U S A
, vol.107
, Issue.24
, pp. 10775-10782
-
-
Richardson, D.R.1
Lane, D.J.2
Becker, E.M.3
Huang, M.L.4
Whitnall, M.5
Suryo, RahmantoY6
-
6
-
-
0033511832
-
Cell biology of heme
-
Ponka P. Cell biology of heme. Am J Med Sci 1999, 318:241-256.
-
(1999)
Am J Med Sci
, vol.318
, pp. 241-256
-
-
Ponka, P.1
-
7
-
-
85016489978
-
Clinically important features of porphyrin and heme metabolism and the porphyrias
-
Besur S., Hou W., Schmeltzer P., Bonkovsky H.L. Clinically important features of porphyrin and heme metabolism and the porphyrias. Metabolites 2014, 4(4):977-1006.
-
(2014)
Metabolites
, vol.4
, Issue.4
, pp. 977-1006
-
-
Besur, S.1
Hou, W.2
Schmeltzer, P.3
Bonkovsky, H.L.4
-
8
-
-
35348896529
-
Protective role of heme oxygenase and heme catabolites
-
Lyoumi S., Tamion F., Leplingard A., Beaumont C., Puy H., Lebreton J.P. Protective role of heme oxygenase and heme catabolites. Hematologie 2007, 13(4):251-265.
-
(2007)
Hematologie
, vol.13
, Issue.4
, pp. 251-265
-
-
Lyoumi, S.1
Tamion, F.2
Leplingard, A.3
Beaumont, C.4
Puy, H.5
Lebreton, J.P.6
-
9
-
-
84870512857
-
The porphyrias: advances in diagnosis and treatment
-
Balwani M., Desnick R.J. The porphyrias: advances in diagnosis and treatment. Blood 2012, 120(23):4496-4504.
-
(2012)
Blood
, vol.120
, Issue.23
, pp. 4496-4504
-
-
Balwani, M.1
Desnick, R.J.2
-
10
-
-
84919682912
-
Acute porphyrias in the USA: features of 108 subjects from Porphyrias Consortium
-
Bonkovsky H.L., Maddukuri V.C., Yazici C., Anderson K.E., Bissell D.M., Bloomer J.R., et al. Acute porphyrias in the USA: features of 108 subjects from Porphyrias Consortium. Am J Med 2014, 127(12):1233-1241.
-
(2014)
Am J Med
, vol.127
, Issue.12
, pp. 1233-1241
-
-
Bonkovsky, H.L.1
Maddukuri, V.C.2
Yazici, C.3
Anderson, K.E.4
Bissell, D.M.5
Bloomer, J.R.6
-
11
-
-
80053601259
-
Protoporphyrin retention in hepatocytes and Kupffer cells prevents sclerosing cholangitis in erythropoietic protoporphyria mouse model
-
Lyoumi S., Abitbol M., Rainteau D., Karim Z., Bernex F., Oustric V., et al. Protoporphyrin retention in hepatocytes and Kupffer cells prevents sclerosing cholangitis in erythropoietic protoporphyria mouse model. Gastroenterology 2011, 141(4):1509-1519.
-
(2011)
Gastroenterology
, vol.141
, Issue.4
, pp. 1509-1519
-
-
Lyoumi, S.1
Abitbol, M.2
Rainteau, D.3
Karim, Z.4
Bernex, F.5
Oustric, V.6
-
12
-
-
84884355114
-
The incidence of inherited porphyrias in Europe
-
Elder G., Harper P., Badminton M., Sandberg S., Deybach J.C. The incidence of inherited porphyrias in Europe. J Inherit Metab Dis 2013, 36(5):849-857.
-
(2013)
J Inherit Metab Dis
, vol.36
, Issue.5
, pp. 849-857
-
-
Elder, G.1
Harper, P.2
Badminton, M.3
Sandberg, S.4
Deybach, J.C.5
-
13
-
-
2942672077
-
Identification of the xenosensors regulating human 5-aminolevulinate synthase
-
Podvinec M., Handschin C., Looser R., Meyer U.A. Identification of the xenosensors regulating human 5-aminolevulinate synthase. Proc Natl Acad Sci U S A 2004, 101:9127-9132.
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 9127-9132
-
-
Podvinec, M.1
Handschin, C.2
Looser, R.3
Meyer, U.A.4
-
14
-
-
23944476164
-
Nutritional regulation of hepatic heme biosynthesis and porphyria through PGC-1alpha
-
Handschin C., Lin J., Rhee J., Peyer A.K., Chin S., Wu P.H., et al. Nutritional regulation of hepatic heme biosynthesis and porphyria through PGC-1alpha. Cell 2005, 122(4):505-515.
-
(2005)
Cell
, vol.122
, Issue.4
, pp. 505-515
-
-
Handschin, C.1
Lin, J.2
Rhee, J.3
Peyer, A.K.4
Chin, S.5
Wu, P.H.6
-
15
-
-
68949090452
-
Role of two nutritional hepatic markers (insulin-like growth factor 1 and transthyretin) in the clinical assessment and follow-up of acute intermittent porphyria patients
-
Delaby C., To-Figueras J., Deybach J.C., Casamitjana R., Puy H., Herrero C. Role of two nutritional hepatic markers (insulin-like growth factor 1 and transthyretin) in the clinical assessment and follow-up of acute intermittent porphyria patients. J Intern Med 2009, 266(3):277-285.
-
(2009)
J Intern Med
, vol.266
, Issue.3
, pp. 277-285
-
-
Delaby, C.1
To-Figueras, J.2
Deybach, J.C.3
Casamitjana, R.4
Puy, H.5
Herrero, C.6
-
16
-
-
84867855979
-
An uncommon option for surviving bariatric surgery: regaining weight!
-
Danion F., Guillot M., Castelain V., Puy H., Deybach J.C., Schneider F. An uncommon option for surviving bariatric surgery: regaining weight!. Am J Med 2012, 125(11):1-2.
-
(2012)
Am J Med
, vol.125
, Issue.11
, pp. 1-2
-
-
Danion, F.1
Guillot, M.2
Castelain, V.3
Puy, H.4
Deybach, J.C.5
Schneider, F.6
-
17
-
-
84908025350
-
Pro-oxidant effect of ALA is implicated in mitochondrial dysfunction of HepG2 cells
-
Laafi J., Homedan C., Jacques C., Gueguen N., Schmitt C., Puy H., et al. Pro-oxidant effect of ALA is implicated in mitochondrial dysfunction of HepG2 cells. Biochimie 2014, 106:157-166.
-
(2014)
Biochimie
, vol.106
, pp. 157-166
-
-
Laafi, J.1
Homedan, C.2
Jacques, C.3
Gueguen, N.4
Schmitt, C.5
Puy, H.6
-
18
-
-
64049107669
-
Peroxisome proliferator-activated receptor alpha controls hepatic heme biosynthesis through ALAS1
-
Degenhardt T., Väisänen S., Rakhshandehroo M., Kersten S., Carlberg C. Peroxisome proliferator-activated receptor alpha controls hepatic heme biosynthesis through ALAS1. J Mol Biol 2009, 388(2):225-238.
-
(2009)
J Mol Biol
, vol.388
, Issue.2
, pp. 225-238
-
-
Degenhardt, T.1
Väisänen, S.2
Rakhshandehroo, M.3
Kersten, S.4
Carlberg, C.5
-
19
-
-
84899551356
-
Acute intermittent porphyria causes hepatic mitochondrial energetic failure in a mouse model
-
Homedan C., Laafi J., Schmitt C., Gueguen N., Lefebvre T., Karim Z., et al. Acute intermittent porphyria causes hepatic mitochondrial energetic failure in a mouse model. Int J Biochem Cell Biol 2014, 51:93-101.
-
(2014)
Int J Biochem Cell Biol
, vol.51
, pp. 93-101
-
-
Homedan, C.1
Laafi, J.2
Schmitt, C.3
Gueguen, N.4
Lefebvre, T.5
Karim, Z.6
-
20
-
-
84894271689
-
Urinary metabolic fingerprint of acute intermittent porphyria analyzed by (1)H NMR spectroscopy
-
Carichon M., Pallet N., Schmitt C., Lefebvre T., Gouya L., Talbi N., et al. Urinary metabolic fingerprint of acute intermittent porphyria analyzed by (1)H NMR spectroscopy. Anal Chem 2014, 86(4):2166-2174.
-
(2014)
Anal Chem
, vol.86
, Issue.4
, pp. 2166-2174
-
-
Carichon, M.1
Pallet, N.2
Schmitt, C.3
Lefebvre, T.4
Gouya, L.5
Talbi, N.6
-
21
-
-
84899978160
-
Adrenal hormonal imbalance in acute intermittent porphyria patients: results of a case control study
-
Pozo O.J., Marcos J., Fabregat A., Ventura R., Casals G., Aguilera P., et al. Adrenal hormonal imbalance in acute intermittent porphyria patients: results of a case control study. Orphanet J Rare Dis 2014, 9:54-65.
-
(2014)
Orphanet J Rare Dis
, vol.9
, pp. 54-65
-
-
Pozo, O.J.1
Marcos, J.2
Fabregat, A.3
Ventura, R.4
Casals, G.5
Aguilera, P.6
-
22
-
-
1542271496
-
Liver transplantation as a cure for acute intermittent porphyria
-
Soonawalla Z.F.O.T., Badminton M.N., Elder G.H., Rhodes J.M., Bramhall S.R., Elias E. Liver transplantation as a cure for acute intermittent porphyria. Lancet 2004, 363(9410):705-706.
-
(2004)
Lancet
, vol.363
, Issue.9410
, pp. 705-706
-
-
Soonawalla, Z.F.O.T.1
Badminton, M.N.2
Elder, G.H.3
Rhodes, J.M.4
Bramhall, S.R.5
Elias, E.6
-
23
-
-
77951954781
-
Combined liver and kidney transplantation in acute intermittent porphyria
-
Wahlin S., Harper P., Sardh E., Andersson C., Andersson D.E., Ericzon B.G. Combined liver and kidney transplantation in acute intermittent porphyria. Transpl Int 2010, 23(6):e18-e21.
-
(2010)
Transpl Int
, vol.23
, Issue.6
, pp. e18-e21
-
-
Wahlin, S.1
Harper, P.2
Sardh, E.3
Andersson, C.4
Andersson, D.E.5
Ericzon, B.G.6
-
24
-
-
84906794228
-
Liver transplantation in the management of porphyria
-
Singal A.K., Parker C., Bowden C., Thapar M., Liu L., McGuire B.M. Liver transplantation in the management of porphyria. Hepatology 2014, 60(3):1082-1089.
-
(2014)
Hepatology
, vol.60
, Issue.3
, pp. 1082-1089
-
-
Singal, A.K.1
Parker, C.2
Bowden, C.3
Thapar, M.4
Liu, L.5
McGuire, B.M.6
-
25
-
-
84906962047
-
Hepatocyte transplantation ameliorates the metabolic abnormality in a mouse model of acute intermittent porphyria
-
Yin Z., Wahlin S., Ellis E.C., Harper P., Ericzon B.G., Nowak G. Hepatocyte transplantation ameliorates the metabolic abnormality in a mouse model of acute intermittent porphyria. Cell Transplant 2014, 23(9):1153-1162.
-
(2014)
Cell Transplant
, vol.23
, Issue.9
, pp. 1153-1162
-
-
Yin, Z.1
Wahlin, S.2
Ellis, E.C.3
Harper, P.4
Ericzon, B.G.5
Nowak, G.6
-
26
-
-
84901660512
-
RNAi-mediated silencing of hepatic ALAS1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice
-
Yasuda M., Gan L., Chen B., Kadirvel S., Yu C., Phillips J.D., et al. RNAi-mediated silencing of hepatic ALAS1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice. Proc Natl Acad Sci U S A 2014, 111(21):7777-7782.
-
(2014)
Proc Natl Acad Sci U S A
, vol.111
, Issue.21
, pp. 7777-7782
-
-
Yasuda, M.1
Gan, L.2
Chen, B.3
Kadirvel, S.4
Yu, C.5
Phillips, J.D.6
-
27
-
-
84938554224
-
High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria
-
[Epub ahead of print]
-
Pallet N., Mami L., Schmitt C., Karim Z., François A., Rabant M., et al. High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria. Kidney Intern 2015, [Epub ahead of print]. 10.1038/ki.2015.97.
-
(2015)
Kidney Intern
-
-
Pallet, N.1
Mami, L.2
Schmitt, C.3
Karim, Z.4
François, A.5
Rabant, M.6
-
28
-
-
84888206536
-
High risk of primary liver cancer in a cohort of 179 patients with acute hepatic porphyria
-
Sardh E., Wahlin S., Björnstedt M., Harper P., Andersson D.E. High risk of primary liver cancer in a cohort of 179 patients with acute hepatic porphyria. J Inherit Metab Dis 2013, 36(6):1063-1071.
-
(2013)
J Inherit Metab Dis
, vol.36
, Issue.6
, pp. 1063-1071
-
-
Sardh, E.1
Wahlin, S.2
Björnstedt, M.3
Harper, P.4
Andersson, D.E.5
-
29
-
-
79954685084
-
Hepatocellular carcinoma without cirrhosis: think acute hepatic porphyrias and vice versa
-
Deybach J.C., Puy H. Hepatocellular carcinoma without cirrhosis: think acute hepatic porphyrias and vice versa. J Intern Med 2011, 269(5):521-524.
-
(2011)
J Intern Med
, vol.269
, Issue.5
, pp. 521-524
-
-
Deybach, J.C.1
Puy, H.2
-
30
-
-
79954596310
-
Screening for hepatocellular carcinoma in acute intermittent porphyria: a 15-year follow-up in northern Sweden
-
Innala E., Andersson C. Screening for hepatocellular carcinoma in acute intermittent porphyria: a 15-year follow-up in northern Sweden. J Intern Med 2011, 269(5):538-545.
-
(2011)
J Intern Med
, vol.269
, Issue.5
, pp. 538-545
-
-
Innala, E.1
Andersson, C.2
-
31
-
-
84923007006
-
Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias
-
[Epub 2014 Nov 28]
-
Schneider-Yin X., van Tuyll van Serooskerken A., Siegesmund M., Went P., Barman-Aksözen J., et al. Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias. J Hepatol 2015, 62(3):734-738. [Epub 2014 Nov 28]. 10.1016/j.jhep.2014.11.029.
-
(2015)
J Hepatol
, vol.62
, Issue.3
, pp. 734-738
-
-
Schneider-Yin, X.1
van Tuyll van Serooskerken, A.2
Siegesmund, M.3
Went, P.4
Barman-Aksözen, J.5
-
32
-
-
84901674261
-
The cutaneous porphyrias
-
Schulenburg-Brand D., Katugampola R., Anstey A.V., Badminton M.N. The cutaneous porphyrias. Dermatol Clin 2014, 32(3):369-384.
-
(2014)
Dermatol Clin
, vol.32
, Issue.3
, pp. 369-384
-
-
Schulenburg-Brand, D.1
Katugampola, R.2
Anstey, A.V.3
Badminton, M.N.4
-
33
-
-
80055099875
-
European specialist porphyria laboratories: diagnostic strategies, analytical quality, clinical interpretation, and reporting as assessed by an external quality assurance program
-
[Erratum in: Clin Chem 2012;58(2):476]
-
Aarsand A.K., Villanger J.H., Støle E., Deybach J.C., Marsden J., To-Figueras J., et al. European specialist porphyria laboratories: diagnostic strategies, analytical quality, clinical interpretation, and reporting as assessed by an external quality assurance program. Clin Chem 2011, 57(11):1514-1523. [Erratum in: Clin Chem 2012;58(2):476].
-
(2011)
Clin Chem
, vol.57
, Issue.11
, pp. 1514-1523
-
-
Aarsand, A.K.1
Villanger, J.H.2
Støle, E.3
Deybach, J.C.4
Marsden, J.5
To-Figueras, J.6
-
34
-
-
84940938275
-
Porphyria cutanea tarda and related disorders
-
Academic Press, San Diego, K.M. Kadish, K.M. Smith, R. Guilard (Eds.)
-
Elder G.H. Porphyria cutanea tarda and related disorders. The porphyrin handbook: medical aspects of porphyria 2003, 67-92. Academic Press, San Diego. 14. K.M. Kadish, K.M. Smith, R. Guilard (Eds.).
-
(2003)
The porphyrin handbook: medical aspects of porphyria
, pp. 67-92
-
-
Elder, G.H.1
-
35
-
-
84861983980
-
Hepatitis C, porphyria cutanea tarda and liver iron: an update
-
Ryan Caballes F., Sendi H., Bonkovsky H.L. Hepatitis C, porphyria cutanea tarda and liver iron: an update. Liver Int 2012, 32(6):880-893.
-
(2012)
Liver Int
, vol.32
, Issue.6
, pp. 880-893
-
-
Ryan Caballes, F.1
Sendi, H.2
Bonkovsky, H.L.3
-
36
-
-
84856292277
-
Iron overload in human disease
-
Fleming R.E., Ponka P. Iron overload in human disease. N Engl J Med 2012, 366(4):348-359.
-
(2012)
N Engl J Med
, vol.366
, Issue.4
, pp. 348-359
-
-
Fleming, R.E.1
Ponka, P.2
-
37
-
-
58149374693
-
Down-regulation of hepcidin in porphyria cutanea tarda
-
Ajioka R.S., Phillips J.D., Weiss R.B., Dunn D.M., Smit M.W., Proll S.C., et al. Down-regulation of hepcidin in porphyria cutanea tarda. Blood 2008, 112(12):4723-4728.
-
(2008)
Blood
, vol.112
, Issue.12
, pp. 4723-4728
-
-
Ajioka, R.S.1
Phillips, J.D.2
Weiss, R.B.3
Dunn, D.M.4
Smit, M.W.5
Proll, S.C.6
-
38
-
-
84872854355
-
Increased serum hepcidin levels in patients with porphyria cutanea tarda
-
Darwich E., To-Figueras J., Molina-López R.A., Deulofeu R., Olbina G., Westerman M., et al. Increased serum hepcidin levels in patients with porphyria cutanea tarda. J Eur Acad Dermatol Venereol 2013, 27(1):e68-e74.
-
(2013)
J Eur Acad Dermatol Venereol
, vol.27
, Issue.1
, pp. e68-e74
-
-
Darwich, E.1
To-Figueras, J.2
Molina-López, R.A.3
Deulofeu, R.4
Olbina, G.5
Westerman, M.6
-
39
-
-
34247558044
-
A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda
-
Phillips J.D., Bergonia H.A., Reilly C.A., Franklin M.R., Kushner J.P. A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda. Proc Natl Acad Sci U S A 2007, 104(12):5079-5084.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, Issue.12
, pp. 5079-5084
-
-
Phillips, J.D.1
Bergonia, H.A.2
Reilly, C.A.3
Franklin, M.R.4
Kushner, J.P.5
-
40
-
-
34447500583
-
Porphomethene inhibitor of uroporphyrinogen decarboxylase: analysis by high-performance liquid chromatography/electrospray ionization tandem mass spectrometry
-
Danton M., Lim C.K. Porphomethene inhibitor of uroporphyrinogen decarboxylase: analysis by high-performance liquid chromatography/electrospray ionization tandem mass spectrometry. Biomed Chromatogr 2007, 21(7):661-663.
-
(2007)
Biomed Chromatogr
, vol.21
, Issue.7
, pp. 661-663
-
-
Danton, M.1
Lim, C.K.2
-
41
-
-
84856218426
-
Comprehensive cytochrome P450 CYP1A2 gene analysis in French caucasian patients with familial and sporadic porphyria cutanea tarda
-
Tchernitchko D., Robréau A.M., Lefebvre T., Lamoril J., Deybach J.C., Puy H. Comprehensive cytochrome P450 CYP1A2 gene analysis in French caucasian patients with familial and sporadic porphyria cutanea tarda. Br J Dermatol 2012, 166(2):425-429.
-
(2012)
Br J Dermatol
, vol.166
, Issue.2
, pp. 425-429
-
-
Tchernitchko, D.1
Robréau, A.M.2
Lefebvre, T.3
Lamoril, J.4
Deybach, J.C.5
Puy, H.6
-
42
-
-
84919486295
-
Treatment of chronic hepatitis with boceprevir leads to remission of porphyria cutanea tarda
-
Aguilera P., Laguno M., To-Figueras J. Treatment of chronic hepatitis with boceprevir leads to remission of porphyria cutanea tarda. Br J Dermatol 2014, 171(6):1595-1596.
-
(2014)
Br J Dermatol
, vol.171
, Issue.6
, pp. 1595-1596
-
-
Aguilera, P.1
Laguno, M.2
To-Figueras, J.3
-
43
-
-
84869430993
-
Low-dose hydroxychloroquine is as effective as phlebotomy in treatment of patients with porphyria cutanea tarda
-
Singal A.K., Kormos-Hallberg C., Lee C., Sadagoparamanujam V.M., Grady J.J., Freeman D.H., et al. Low-dose hydroxychloroquine is as effective as phlebotomy in treatment of patients with porphyria cutanea tarda. Clin Gastroenterol Hepatol 2012, 10(12):1402-1409.
-
(2012)
Clin Gastroenterol Hepatol
, vol.10
, Issue.12
, pp. 1402-1409
-
-
Singal, A.K.1
Kormos-Hallberg, C.2
Lee, C.3
Sadagoparamanujam, V.M.4
Grady, J.J.5
Freeman, D.H.6
-
44
-
-
0037948285
-
Diagnosis and management of the erythropoietic porphyrias
-
Murphy G.M. Diagnosis and management of the erythropoietic porphyrias. Dermatol Ther 2003, 16:57-64.
-
(2003)
Dermatol Ther
, vol.16
, pp. 57-64
-
-
Murphy, G.M.1
-
45
-
-
37049019507
-
Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria
-
Holme S.A., Worwood M., Anstey A.V., Elder G.H., Badminton M.N. Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria. Blood 2007, 110:4108-4110.
-
(2007)
Blood
, vol.110
, pp. 4108-4110
-
-
Holme, S.A.1
Worwood, M.2
Anstey, A.V.3
Elder, G.H.4
Badminton, M.N.5
-
46
-
-
33846256111
-
Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice
-
Lyoumi S., Abitbol M., Andrieu V., Henin D., Robert E., Schmitt C., et al. Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice. Blood 2007, 109:811-818.
-
(2007)
Blood
, vol.109
, pp. 811-818
-
-
Lyoumi, S.1
Abitbol, M.2
Andrieu, V.3
Henin, D.4
Robert, E.5
Schmitt, C.6
-
47
-
-
59949095105
-
Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance
-
Holme S.A., Whatley S.D., Roberts A.G., Anstey A.V., Elder G.H., Ead R.D., et al. Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance. J Invest Dermatol 2009, 129(3):599-605.
-
(2009)
J Invest Dermatol
, vol.129
, Issue.3
, pp. 599-605
-
-
Holme, S.A.1
Whatley, S.D.2
Roberts, A.G.3
Anstey, A.V.4
Elder, G.H.5
Ead, R.D.6
-
48
-
-
84879469510
-
Liver transplantation for acute-on-chronic liver failure from erythropoietic protoporphyria
-
Park P.J., Hwang S., Choi Y.I., Yu Y.D., Park G.C., Jung S.W., et al. Liver transplantation for acute-on-chronic liver failure from erythropoietic protoporphyria. Clin Mol Hepatol 2012, 18(4):411-415.
-
(2012)
Clin Mol Hepatol
, vol.18
, Issue.4
, pp. 411-415
-
-
Park, P.J.1
Hwang, S.2
Choi, Y.I.3
Yu, Y.D.4
Park, G.C.5
Jung, S.W.6
-
49
-
-
77957322862
-
Inheritance in erythropoietic protoporphyria
-
Schmitt C., Ducamp S., Gouya L., Deybach J.C., Puy H. Inheritance in erythropoietic protoporphyria. Pathol Biol (Paris) 2010, 58(5):372-380.
-
(2010)
Pathol Biol (Paris)
, vol.58
, Issue.5
, pp. 372-380
-
-
Schmitt, C.1
Ducamp, S.2
Gouya, L.3
Deybach, J.C.4
Puy, H.5
-
50
-
-
29244454253
-
Contribution of a common 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. Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Genet 2006, 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
-
51
-
-
84897999586
-
Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria
-
Oustric V., Manceau H., Ducamp S., Soaid R., Karim Z., Schmitt C., et al. Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria. Am J Hum Genet 2014, 94(4):611-617.
-
(2014)
Am J Hum Genet
, vol.94
, Issue.4
, pp. 611-617
-
-
Oustric, V.1
Manceau, H.2
Ducamp, S.3
Soaid, R.4
Karim, Z.5
Schmitt, C.6
-
53
-
-
84930384496
-
Long-term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria
-
[Epub 2015 Apr 30]
-
Biolcati G., Marchesini E., Sorge F., Barbieri L., Schneider-Yin X., Minder E.I. Long-term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria. Br J Dermatol 2015, 172(6):1601-1612. [Epub 2015 Apr 30]. 10.1111/bjd.13598.
-
(2015)
Br J Dermatol
, vol.172
, Issue.6
, pp. 1601-1612
-
-
Biolcati, G.1
Marchesini, E.2
Sorge, F.3
Barbieri, L.4
Schneider-Yin, X.5
Minder, E.I.6
-
54
-
-
84916940347
-
Afamelanotide (CUV1647) in dermal phototoxicity of erythropoietic protoporphyria
-
Minder E.I., Schneider-Yin X. Afamelanotide (CUV1647) in dermal phototoxicity of erythropoietic protoporphyria. Expert Rev Clin Pharmacol 2015, 8(1):43-53.
-
(2015)
Expert Rev Clin Pharmacol
, vol.8
, Issue.1
, pp. 43-53
-
-
Minder, E.I.1
Schneider-Yin, X.2
-
55
-
-
33847191722
-
Ursodesoxycholic acid and heme-arginate are unable to improve hematopoiesis and liver injury in an erythropoietic protoporphyria mouse model
-
Abitbol M., Puy H., Sabaté J.M., Guénet J.L., Deybach J.C., Montagutelli X. Ursodesoxycholic acid and heme-arginate are unable to improve hematopoiesis and liver injury in an erythropoietic protoporphyria mouse model. Physiol Res 2006, 55(Suppl. 2):S93-S101.
-
(2006)
Physiol Res
, vol.55
, pp. S93-S101
-
-
Abitbol, M.1
Puy, H.2
Sabaté, J.M.3
Guénet, J.L.4
Deybach, J.C.5
Montagutelli, X.6
-
56
-
-
51149108520
-
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload
-
Whatley S.D., Gouya L., Grandchamp B., Beaumont C., Badminton M.N., Elder G.H., et al. C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. Am J Hum Genet 2008, 83:408-414.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 408-414
-
-
Whatley, S.D.1
Gouya, L.2
Grandchamp, B.3
Beaumont, C.4
Badminton, M.N.5
Elder, G.H.6
-
57
-
-
84874767138
-
Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and X-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria
-
Balwani M., Doheny D., Bishop D.F., Nazarenko I., Yasuda M., Dailey H.A., et al. Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and X-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria. Mol Med 2013, 19:26-35.
-
(2013)
Mol Med
, vol.19
, pp. 26-35
-
-
Balwani, M.1
Doheny, D.2
Bishop, D.F.3
Nazarenko, I.4
Yasuda, M.5
Dailey, H.A.6
-
58
-
-
84878559551
-
Late-onset x-linked dominant protoporphyria: an etiology of photosensitivity in the elderly
-
Livideanu C.B., Ducamp S., Lamant L., Gouya L., Rauzy O.B., Deybach J.C., et al. Late-onset x-linked dominant protoporphyria: an etiology of photosensitivity in the elderly. J Invest Dermatol 2013, 133(6):1688-1690.
-
(2013)
J Invest Dermatol
, vol.133
, Issue.6
, pp. 1688-1690
-
-
Livideanu, C.B.1
Ducamp, S.2
Lamant, L.3
Gouya, L.4
Rauzy, O.B.5
Deybach, J.C.6
-
59
-
-
84874768189
-
Molecular and functional analysis of the c-terminal region of human erythroid specific δ-aminolevulinic synthase associated with x-linked dominant protoporphyria (XLDPP)
-
Ducamp S., Schneider-Yin X., de Rooij F., Clayton J., Fratz E.J., Rudd A., et al. Molecular and functional analysis of the c-terminal region of human erythroid specific δ-aminolevulinic synthase associated with x-linked dominant protoporphyria (XLDPP). Hum Mol Genet 2013, 22(7):1280-1288.
-
(2013)
Hum Mol Genet
, vol.22
, Issue.7
, pp. 1280-1288
-
-
Ducamp, S.1
Schneider-Yin, X.2
de Rooij, F.3
Clayton, J.4
Fratz, E.J.5
Rudd, A.6
-
60
-
-
79957622993
-
Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations
-
Ducamp S., Kannengiesser C., Touati M., Garçon L., Guerci-Bresler A., Guichard J.F., et al. Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations. Hum Mutat 2011, 32(6):590-597.
-
(2011)
Hum Mutat
, vol.32
, Issue.6
, pp. 590-597
-
-
Ducamp, S.1
Kannengiesser, C.2
Touati, M.3
Garçon, L.4
Guerci-Bresler, A.5
Guichard, J.F.6
-
61
-
-
84874782741
-
Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria
-
Bishop D.F., Tchaikovskii V., Nazarenko I., Desnick R.J. Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria. Mol Med 2013, 19:18-25.
-
(2013)
Mol Med
, vol.19
, pp. 18-25
-
-
Bishop, D.F.1
Tchaikovskii, V.2
Nazarenko, I.3
Desnick, R.J.4
-
62
-
-
84867009096
-
Amanagement algorithm for congenital erythropoietic porphyria derived from a study of 29 cases
-
Katugampola R.P., Anstey A.V., Finlay A.Y., Whatley S., Woolf J., Mason N., et al. Amanagement algorithm for congenital erythropoietic porphyria derived from a study of 29 cases. Br J Dermatol 2012, 167(4):888-900.
-
(2012)
Br J Dermatol
, vol.167
, Issue.4
, pp. 888-900
-
-
Katugampola, R.P.1
Anstey, A.V.2
Finlay, A.Y.3
Whatley, S.4
Woolf, J.5
Mason, N.6
-
63
-
-
33947223723
-
Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria
-
Phillips J.D., Steensma D.P., Pulsipher M.A., Spangrude G.J., Kushner J.P. Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. Blood 2007, 109(6):2618-2621.
-
(2007)
Blood
, vol.109
, Issue.6
, pp. 2618-2621
-
-
Phillips, J.D.1
Steensma, D.P.2
Pulsipher, M.A.3
Spangrude, G.J.4
Kushner, J.P.5
-
64
-
-
80051639814
-
ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria
-
To-Figueras J., Ducamp S., Clayton J., Badenas C., Delaby C., Ged C., et al. ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria. Blood 2011, 118(6):1443-1451.
-
(2011)
Blood
, vol.118
, Issue.6
, pp. 1443-1451
-
-
To-Figueras, J.1
Ducamp, S.2
Clayton, J.3
Badenas, C.4
Delaby, C.5
Ged, C.6
-
65
-
-
84887296191
-
Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria
-
Blouin J.M., Duchartre Y., Costet P., Lalanne M., Ged C., Lain A., et al. Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria. Proc Natl Acad Sci U S A 2013, 110(45):18238-18243.
-
(2013)
Proc Natl Acad Sci U S A
, vol.110
, Issue.45
, pp. 18238-18243
-
-
Blouin, J.M.1
Duchartre, Y.2
Costet, P.3
Lalanne, M.4
Ged, C.5
Lain, A.6
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