-
1
-
-
0028149374
-
Erythropoietic protoporphyria
-
Todd DJ. Erythropoietic protoporphyria. Br J Dermatol 1994;131:751-66.
-
(1994)
Br J Dermatol
, vol.131
, pp. 751-766
-
-
Todd, D.J.1
-
2
-
-
4243900330
-
Porphyrias
-
Arndt KA, LeBoit PE, Robinson JK, Wintroub BU, editors. Philadelphia: WB Saunders
-
Poh-Fitzpatrick MB. Porphyrias. In: Arndt KA, LeBoit PE, Robinson JK, Wintroub BU, editors. Cutaneous medicine and surgery: an integrated program in dermatology. Philadelphia: WB Saunders; 1995. p. 1753-62.
-
(1995)
Cutaneous medicine and surgery: an integrated program in dermatology
, pp. 1753-1762
-
-
Poh-Fitzpatrick, M.B.1
-
3
-
-
0000718795
-
X-linked sideroblastic anemias and the porphyrias
-
Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B, editors. New York: McGraw-Hill
-
Anderson KE, Sassa S, Bishop DF, Desnick RJ. X-linked sideroblastic anemias and the porphyrias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B, editors. The metabolic and molecular basis of inherited disease. Vol II. New York: McGraw-Hill; 2001. p. 2991-3062.
-
(2001)
The metabolic and molecular basis of inherited disease
, vol.2
, pp. 2991-3062
-
-
Anderson, K.E.1
Sassa, S.2
Bishop, D.F.3
Desnick, R.J.4
-
4
-
-
0030911173
-
Erythropoietic protoporphyria
-
Cox TM. Erythropoietic protoporphyria. J Inherit Metab Dis 1997;20:258-69.
-
(1997)
J Inherit Metab Dis
, vol.20
, pp. 258-269
-
-
Cox, T.M.1
-
5
-
-
0033813299
-
New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care
-
Schneider-Yin X, Gouya L, Meier-Weinand A, Deybach JC, Minder E. New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care. Eur J Pediatr 2000;159:719-25.
-
(2000)
Eur J Pediatr
, vol.159
, pp. 719-725
-
-
Schneider-Yin, X.1
Gouya, L.2
Meier-Weinand, A.3
Deybach, J.C.4
Minder, E.5
-
6
-
-
0021615176
-
Genetic aspect of erythropoietic protoporphyria
-
Went LN, Klasen EC. Genetic aspect of erythropoietic protoporphyria. Ann Hum Genet 1984;48:105-17.
-
(1984)
Ann Hum Genet
, vol.48
, pp. 105-117
-
-
Went, L.N.1
Klasen, E.C.2
-
7
-
-
0030067853
-
Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele
-
Gouya L, Deybach JC, Lamoril J, et al. Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele. Am J Hum Genet 1996;58:292-9.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 292-299
-
-
Gouya, L.1
Deybach, J.C.2
Lamoril, J.3
-
8
-
-
0031779289
-
Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria
-
Rüfenacht UB, 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.B.1
Gouya, L.2
Schneider-Yin, X.3
-
9
-
-
0032775803
-
Haplotype analysis of families with erythropoietic protoporphyria and novel mutations of the ferrochelatase gene
-
Wang X, Yang L, Kurtz L, et al. Haplotype analysis of families with erythropoietic protoporphyria and novel mutations of the ferrochelatase gene. J Invest Dermatol 1999;113:87-92.
-
(1999)
J Invest Dermatol
, vol.113
, pp. 87-92
-
-
Wang, X.1
Yang, L.2
Kurtz, L.3
-
10
-
-
0033560096
-
Inheritance in erythropoietic protoporphyria: A common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation
-
Gouya L, Puy H, Lamoril J, et al. Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation. Blood 1999;93:2105-10.
-
(1999)
Blood
, vol.93
, pp. 2105-2110
-
-
Gouya, L.1
Puy, H.2
Lamoril, J.3
-
11
-
-
0026338563
-
Human erythropoietic protoporphyria: Two point mutations in the ferrochelatase gene
-
Lamoril J, Boulechfar S, de Verneuil H, Grandchamp B, Nordmann Y, Deybach JC. Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene. Biochem Biophys Res Comm 1991;181:594-9.
-
(1991)
Biochem Biophys Res Comm
, 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
-
12
-
-
0028290552
-
Recessive inheritance of erythropoietic protoporphyria with liver failure
-
Sarkany RPE, Alexander GJMA, Cox TM. Recessive inheritance of erythropoietic protoporphyria with liver failure. Lancet 1994;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
-
13
-
-
0028933621
-
Extramedullary toxicity of a conditioning regimen containing busulphan, cyclophosphamide and etoposide in 84 patients undergoing autologous and allogenic bone marrow transplantation
-
Crilley P, Topolsky D, Styler M, et al. Extramedullary toxicity of a conditioning regimen containing busulphan, cyclophosphamide and etoposide in 84 patients undergoing autologous and allogenic bone marrow transplantation. Bone Marrow Transplant 1995;15:361-5.
-
(1995)
Bone Marrow Transplant
, vol.15
, pp. 361-365
-
-
Crilley, P.1
Topolsky, D.2
Styler, M.3
-
14
-
-
0027365965
-
Cyclosporine, methotrexate, and prednisone compared with cyclosporine and prednisone for prophylaxis of acute graft-versus-host disease
-
Chao N, Schmidt G, Niland J, et al. Cyclosporine, methotrexate, and prednisone compared with cyclosporine and prednisone for prophylaxis of acute graft-versus-host disease. N Engl J Med 1993;329:1225-30.
-
(1993)
N Engl J Med
, vol.329
, pp. 1225-1230
-
-
Chao, N.1
Schmidt, G.2
Niland, J.3
-
15
-
-
0015634757
-
A micromethod for free er0ythrocyte protoporphyrin: The FEP test
-
Piomelli S. A micromethod for free erythrocyte protoporphyrin: the FEP test. J Lab Clin Med 1973;81:932-40.
-
(1973)
J Lab Clin Med
, vol.81
, pp. 932-940
-
-
Piomelli, S.1
-
16
-
-
0017657781
-
Rates of porphyrin disappearance in fluorescent vs. red incandescent light exposure
-
Poh-Fitzpatrick MB, DeLeo VA. Rates of porphyrin disappearance in fluorescent vs. red incandescent light exposure. J Invest Dermatol 1977;69:510-2.
-
(1977)
J Invest Dermatol
, vol.69
, pp. 510-512
-
-
Poh-Fitzpatrick, M.B.1
DeLeo, V.A.2
-
17
-
-
0017250456
-
Direct spectrofluorimetry of diluted erythrocytes and plasma: A rapid diagnostic method in primary and secondary porphyrinemias
-
Poh-Fitzpatrick MB, Lamola AA. Direct spectrofluorimetry of diluted erythrocytes and plasma: a rapid diagnostic method in primary and secondary porphyrinemias. J Lab Clin Med 1976;87: 362-70.
-
(1976)
J Lab Clin Med
, vol.87
, pp. 362-370
-
-
Poh-Fitzpatrick, M.B.1
Lamola, A.A.2
-
18
-
-
0017178574
-
Chromatography on Florisil in the quantitative estimation of urinary and other porphyrins
-
Schwartz S, Stephenson B, Sarkar D. Chromatography on Florisil in the quantitative estimation of urinary and other porphyrins. Clin Chem 1976;22:1057-61.
-
(1976)
Clin Chem
, vol.22
, pp. 1057-1061
-
-
Schwartz, S.1
Stephenson, B.2
Sarkar, D.3
-
19
-
-
78651057641
-
The occurrence and determination of δ-aminolevulinic acid and porphobilinogen in urine
-
Mauzerall D, Granick S. The occurrence and determination of δ-aminolevulinic acid and porphobilinogen in urine. J Biol Chem 1956;219:435-6.
-
(1956)
J Biol Chem
, vol.219
, pp. 435-436
-
-
Mauzerall, D.1
Granick, S.2
-
22
-
-
0024338232
-
Liver transplantation in a patient with protoporphyria
-
Bloomer JR, Weimer MK, Bossenmaier IC, Snover DC, Payne WD, Ascher NL. Liver transplantation in a patient with protoporphyria. Gastroenterology 1989;97:188-94.
-
(1989)
Gastroenterology
, vol.97
, pp. 188-194
-
-
Bloomer, J.R.1
Weimer, M.K.2
Bossenmaier, I.C.3
Snover, D.C.4
Payne, W.D.5
Ascher, N.L.6
-
23
-
-
0022546835
-
Use of highly polymorphic DNA probes for genotypic analysis following bone marrow transplantation
-
Knowlton RG, Brown VA, Braman JC, et al. Use of highly polymorphic DNA probes for genotypic analysis following bone marrow transplantation. Blood 1986;68:378-85.
-
(1986)
Blood
, vol.68
, pp. 378-385
-
-
Knowlton, R.G.1
Brown, V.A.2
Braman, J.C.3
-
25
-
-
0023753018
-
Diagnosis of sickle cell anemia and β-thalassemia with enzymatically amplified DNA and nonradioactive allele-specific oligonucleotide probes
-
Saiki RK, Chang CA, Levenson CH, et al. Diagnosis of sickle cell anemia and β-thalassemia with enzymatically amplified DNA and nonradioactive allele-specific oligonucleotide probes. N Engl J Med 1988;319:537-41.
-
(1988)
N Engl J Med
, vol.319
, pp. 537-541
-
-
Saiki, R.K.1
Chang, C.A.2
Levenson, C.H.3
-
26
-
-
4243994235
-
Acquired erythropoietic protoporphyria and sideroblastic anemia
-
Bottomley SS, Moore MZ. Acquired erythropoietic protoporphyria and sideroblastic anemia [abstract]. Clin Res 1987;35:38A.
-
(1987)
Clin Res
, vol.35
-
-
Bottomley, S.S.1
Moore, M.Z.2
-
27
-
-
0026721373
-
Photosensitivity, abnormal porphyrin profile, and sideroblastic anemia
-
Lim HW, Cooper D, Sassa S, Dosik H, Buchness MR, Soter NA. Photosensitivity, abnormal porphyrin profile, and sideroblastic anemia. J Am Acad Dermatol 1992;27:287-92.
-
(1992)
J Am Acad Dermatol
, vol.27
, pp. 287-292
-
-
Lim, H.W.1
Cooper, D.2
Sassa, S.3
Dosik, H.4
Buchness, M.R.5
Soter, N.A.6
-
28
-
-
0014673290
-
Sideroblastic anemia with dermal photosensitivity and greatly increased erythrocyte protoporphyrin
-
Rothstein G, Lee GR, Cartwright GE. Sideroblastic anemia with dermal photosensitivity and greatly increased erythrocyte protoporphyrin. N Engl J Med 1969;280:587-90.
-
(1969)
N Engl J Med
, vol.280
, pp. 587-590
-
-
Rothstein, G.1
Lee, G.R.2
Cartwright, G.E.3
-
29
-
-
0019742681
-
A case of sideroblastic anemia with dermal photosensitivity and increased erythrocyte protoporphyrin
-
Sato Y, Motoji T, Yamada O, et al. A case of sideroblastic anemia with dermal photosensitivity and increased erythrocyte protoporphyrin. Rinsho Ketsueki 1981;22:1971-6.
-
(1981)
Rinsho Ketsueki
, vol.22
, pp. 1971-1976
-
-
Sato, Y.1
Motoji, T.2
Yamada, O.3
-
30
-
-
0017332779
-
Porphyrin and iron metabolism in sideroblastic anemia
-
Bottomley SS. Porphyrin and iron metabolism in sideroblastic anemia. Semin Hematol 1977;14:169-85.
-
(1977)
Semin Hematol
, vol.14
, pp. 169-185
-
-
Bottomley, S.S.1
-
31
-
-
0022413082
-
Combined phenotypic and genotypic analysis of ringed sideroblasts in acquired idiopathic sideroblastic anemia
-
Bennett DD, Stanley WS, Johnson CB. Combined phenotypic and genotypic analysis of ringed sideroblasts in acquired idiopathic sideroblastic anemia. Acta Haematol 1985;73:235-8.
-
(1985)
Acta Haematol
, vol.73
, pp. 235-238
-
-
Bennett, D.D.1
Stanley, W.S.2
Johnson, C.B.3
-
32
-
-
0026576256
-
Structure of the human ferrochelatase gene: Exon/intron gene organization and location of the gene to chromosome 18
-
Taketani S, Inazawa J, Nakahashi Y, Abe T, Tokunaga R. Structure of the human ferrochelatase gene: exon/intron gene organization and location of the gene to chromosome 18. Eur J Biochem 1992;205:217-22.
-
(1992)
Eur J Biochem
, vol.205
, pp. 217-222
-
-
Taketani, S.1
Inazawa, J.2
Nakahashi, Y.3
Abe, T.4
Tokunaga, R.5
|