-
1
-
-
0028149374
-
Erythropoietic protoporphyria
-
Todd DJ. Erythropoietic protoporphyria. Brit J Dermatol. 1994;131:751-766.
-
(1994)
Brit J Dermatol
, vol.131
, pp. 751-766
-
-
Todd, D.J.1
-
2
-
-
0036337671
-
The penetrance of autosomal dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH
-
Gouya L, Puy H, Robreau AM, et al. The penetrance of autosomal dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. Nat Genet. 2002;30:27-30.
-
(2002)
Nat Genet
, vol.30
, pp. 27-30
-
-
Gouya, L.1
Puy, H.2
Robreau, A.M.3
-
3
-
-
0142058045
-
Genotype determinants of phenotype in North American patients with erythropoietic protoporphyria
-
Risheg H, Chen FP, Bloomer JR. Genotype determinants of phenotype in North American patients with erythropoietic protoporphyria. Mol Genet Metab. 2003;80:196-206.
-
(2003)
Mol Genet Metab
, vol.80
, pp. 196-206
-
-
Risheg, H.1
Chen, F.P.2
Bloomer, J.R.3
-
4
-
-
16544379257
-
Autosomal recessive erythropoietic protoporphyria in the United Kingdom: Prevalence and relationship to liver disease
-
Whatley SD, Mason NG, Khan M, et al. Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease. J Med Genet. 2004;41:e105.
-
(2004)
J Med Genet
, vol.41
-
-
Whatley, S.D.1
Mason, N.G.2
Khan, M.3
-
5
-
-
0023902682
-
The liver in protoporphyria
-
Bloomer JR. The liver in protoporphyria. Hepatol. 1988;8:402-407.
-
(1988)
Hepatol
, vol.8
, pp. 402-407
-
-
Bloomer, J.R.1
-
6
-
-
0034351813
-
Erythropoietic protoporphyria: An overview with emphasis on the liver
-
Meerman L. Erythropoietic protoporphyria: an overview with emphasis on the liver. Scand J Gastroenterol. 2000;35(suppl 232):79-85.
-
(2000)
Scand J Gastroenterol
, vol.35
, Issue.232 SUPPL.
, pp. 79-85
-
-
Meerman, L.1
-
7
-
-
0026721373
-
Photosensitivity, abnormal porphyrin profile, and sideroblastic anemia
-
Lim HW, Cooper D, Sassa S, et al. Photosensitivity, abnormal porphyrin profile, and sideroblastic anemia. J Am Acad Dermatol. 1992;27:287-292.
-
(1992)
J Am Acad Dermatol
, vol.27
, pp. 287-292
-
-
Lim, H.W.1
Cooper, D.2
Sassa, S.3
-
8
-
-
0034219372
-
Myelodysplastic syndrome terminating in erythropoietic protoporphyria after 15 years of aplastic anemia
-
Shirota T, Yamamoto H, Hayashi S, et al. Myelodysplastic syndrome terminating in erythropoietic protoporphyria after 15 years of aplastic anemia. Int J Hematol. 2000;72:44-47.
-
(2000)
Int J Hematol
, vol.72
, pp. 44-47
-
-
Shirota, T.1
Yamamoto, H.2
Hayashi, S.3
-
9
-
-
0035675628
-
Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells
-
Aplin C, Whatley SD, Thompson P, et al. Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells. J Invest Dermatol. 2001;117:1647-1649.
-
(2001)
J Invest Dermatol
, vol.117
, pp. 1647-1649
-
-
Aplin, C.1
Whatley, S.D.2
Thompson, P.3
-
10
-
-
30144441942
-
Adult onset erythropoietic protoporphyria in association with myelodysplastic syndrome
-
New Orleans, LA, February 22-27
-
Spann CT, Tok J, Nimer S, Zug K, Deleo V. Adult onset erythropoietic protoporphyria in association with myelodysplastic syndrome [abstract]. American Academy of Dermatology Annual Meeting, New Orleans, LA, February 22-27, 2002.
-
(2002)
American Academy of Dermatology Annual Meeting
-
-
Spann, C.T.1
Tok, J.2
Nimer, S.3
Zug, K.4
Deleo, V.5
-
11
-
-
0030016279
-
Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis
-
Yau SC, Bobrow M, Mathew CG, Abbs SJ. Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. J Med Genet. 1996;33:550-558.
-
(1996)
J Med Genet
, vol.33
, pp. 550-558
-
-
Yau, S.C.1
Bobrow, M.2
Mathew, C.G.3
Abbs, S.J.4
-
12
-
-
0035406122
-
Front line tests for the investigation of suspected porphyria
-
Deacon AC, Elder GH. Front line tests for the investigation of suspected porphyria. J Clin Pathol. 2001;54:500-507.
-
(2001)
J Clin Pathol
, vol.54
, pp. 500-507
-
-
Deacon, A.C.1
Elder, G.H.2
-
13
-
-
84940927252
-
Protoporphyria
-
Kadish KM, Smith KM, Guilard R, eds. Amsterdam, the Netherlands: Academic Press
-
Cox TM. Protoporphyria. In: The Porphyrin Handbook: Medical Aspects of Porphyrias. Vol 14. Kadish KM, Smith KM, Guilard R, eds. Amsterdam, the Netherlands: Academic Press. 2003;121-150.
-
(2003)
The Porphyrin Handbook: Medical Aspects of Porphyrias
, vol.14
, pp. 121-150
-
-
Cox, T.M.1
-
14
-
-
1542283736
-
Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematological phenotype than germline ATRX mutations
-
Steensma DP, Higgs DR, Fisher CA, Gibbons RJ. Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematological phenotype than germline ATRX mutations. Blood. 2004;103:2019-2026.
-
(2004)
Blood
, vol.103
, pp. 2019-2026
-
-
Steensma, D.P.1
Higgs, D.R.2
Fisher, C.A.3
Gibbons, R.J.4
-
15
-
-
0036479386
-
Late-onset porphyrias: What are they?
-
Noisy-le-grand
-
Sassa S, Akagi R, Nishitani C, Harigae H, Furiyama K. Late-onset porphyrias: what are they? Cell Mol Biol (Noisy-le-grand). 2002;48:97-101.
-
(2002)
Cell Mol Biol
, vol.48
, pp. 97-101
-
-
Sassa, S.1
Akagi, R.2
Nishitani, C.3
Harigae, H.4
Furiyama, K.5
-
16
-
-
0019500767
-
Protoporphyrin-induced cholestasis in the isolated in situ perfused rat liver
-
Avner DL, Lee RG, Berenson MM. Protoporphyrin-induced cholestasis in the isolated in situ perfused rat liver. J Clin Invest. 1981;67:385-394.
-
(1981)
J Clin Invest
, vol.67
, pp. 385-394
-
-
Avner, D.L.1
Lee, R.G.2
Berenson, M.M.3
-
17
-
-
0037083764
-
Benefits of chronic plasmapheresis and intravenous heme-albumin in erythropoietic protoporphyria after orthotopic liver transplantation
-
Do KD, Banner BF, Katz E, Szymanski IO, Bonkovsky HL. Benefits of chronic plasmapheresis and intravenous heme-albumin in erythropoietic protoporphyria after orthotopic liver transplantation. Transplantation. 2002;73:469-472.
-
(2002)
Transplantation
, vol.73
, pp. 469-472
-
-
Do, K.D.1
Banner, B.F.2
Katz, E.3
Szymanski, I.O.4
Bonkovsky, H.L.5
-
18
-
-
0037181417
-
Treatment of recurrent allograft dysfunction with intravenous hematin after liver transplantation for erythropoietic protoporphyria
-
Dellon ES, Szczepiorkowski ZM, Dzik WH, et al. Treatment of recurrent allograft dysfunction with intravenous hematin after liver transplantation for erythropoietic protoporphyria. Transplantation. 2002;73:911-915.
-
(2002)
Transplantation
, vol.73
, pp. 911-915
-
-
Dellon, E.S.1
Szczepiorkowski, Z.M.2
Dzik, W.H.3
-
20
-
-
0033853914
-
Genetic instability in myelodysplastic syndrome: Detection of microsatellite instability and loss of heterozygosity in bone marrow samples with karyotype alterations
-
Maeck L, Haase D, Schoch C, Hiddemann W, Alves F. Genetic instability in myelodysplastic syndrome: detection of microsatellite instability and loss of heterozygosity in bone marrow samples with karyotype alterations. Br J Haematol. 2000;109:842-846.
-
(2000)
Br J Haematol
, vol.109
, pp. 842-846
-
-
Maeck, L.1
Haase, D.2
Schoch, C.3
Hiddemann, W.4
Alves, F.5
|