-
1
-
-
0000718795
-
Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias
-
New York: McGraw-Hill, Scriver CR, Beaugrand M, Sly WS, Valle D, 8
-
Anderson K, Sassa S, Bishop DF, Desnick RJ. Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias. The Metabolic and Molecular Basis of Inherited Disease 2001, 2991-3062. New York: McGraw-Hill, Scriver CR, Beaugrand M, Sly WS, Valle D, 8.
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 2991-3062
-
-
Anderson, K.1
Sassa, S.2
Bishop, D.F.3
Desnick, R.J.4
-
2
-
-
70349330944
-
Erythropoietic protoporphyria
-
10.1186/1750-1172-4-19, 2747912, 19744342
-
Lecha M, Puy H, Deybach JC. Erythropoietic protoporphyria. Orphanet J Rare Dis 2009, 4:19. 10.1186/1750-1172-4-19, 2747912, 19744342.
-
(2009)
Orphanet J Rare Dis
, vol.4
, pp. 19
-
-
Lecha, M.1
Puy, H.2
Deybach, J.C.3
-
3
-
-
51149108520
-
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload
-
10.1016/j.ajhg.2008.08.003, 2556430, 18760763
-
Whatley SD, Ducamp S, Gouya L, Grandchamp B, Beaumont C, Badminton MN, Elder GH, Holme SA, Anstey AV, Parker M, Corrigall AV, Meissner PN, Hift RJ, Marsden JT, Ma Y, Mieli-Vergani G, Deybach JC, Puy H. 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. 10.1016/j.ajhg.2008.08.003, 2556430, 18760763.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 408-414
-
-
Whatley, S.D.1
Ducamp, S.2
Gouya, L.3
Grandchamp, B.4
Beaumont, C.5
Badminton, M.N.6
Elder, G.H.7
Holme, S.A.8
Anstey, A.V.9
Parker, M.10
Corrigall, A.V.11
Meissner, P.N.12
Hift, R.J.13
Marsden, J.T.14
Ma, Y.15
Mieli-Vergani, G.16
Deybach, J.C.17
Puy, H.18
-
4
-
-
0016715953
-
Erythropoietic protoporphyria and lead intoxication: the molecular basis for difference in cutaneous photosensitivity. II. Different binding of erythrocyte protoporphyrin to hemoglobin
-
10.1172/JCI108234, 333131, 1202083
-
Lamola AA, Piomelli S, Poh-Fitzpatrick MG, Yamane T, Harber LC. Erythropoietic protoporphyria and lead intoxication: the molecular basis for difference in cutaneous photosensitivity. II. Different binding of erythrocyte protoporphyrin to hemoglobin. J Clin Invest 1975, 56:1528-1535. 10.1172/JCI108234, 333131, 1202083.
-
(1975)
J Clin Invest
, vol.56
, pp. 1528-1535
-
-
Lamola, A.A.1
Piomelli, S.2
Poh-Fitzpatrick, M.G.3
Yamane, T.4
Harber, L.C.5
-
5
-
-
0016796649
-
Erythropoietic protoporphyria and lead intoxication: the molecular basis for difference in cutaneous photosensitivity. I. Different rates of disappearance of protoporphyrin from the erythrocytes, both in vivo and in vitro
-
10.1172/JCI108233, 333130, 1202082
-
Piomelli S, Lamola AA, Poh-Fitzpatrick MF, Seaman C, Harber LC. Erythropoietic protoporphyria and lead intoxication: the molecular basis for difference in cutaneous photosensitivity. I. Different rates of disappearance of protoporphyrin from the erythrocytes, both in vivo and in vitro. J Clin Invest 1975, 56:1519-1527. 10.1172/JCI108233, 333130, 1202082.
-
(1975)
J Clin Invest
, vol.56
, pp. 1519-1527
-
-
Piomelli, S.1
Lamola, A.A.2
Poh-Fitzpatrick, M.F.3
Seaman, C.4
Harber, L.C.5
-
6
-
-
0024377861
-
Hepatobiliary implications and complications in protoporphyria, a 20-year study
-
10.1016/S0009-9120(89)80081-5, 2736774
-
Doss MO, Frank M. Hepatobiliary implications and complications in protoporphyria, a 20-year study. Clin Biochem 1989, 22:223-229. 10.1016/S0009-9120(89)80081-5, 2736774.
-
(1989)
Clin Biochem
, vol.22
, pp. 223-229
-
-
Doss, M.O.1
Frank, M.2
-
7
-
-
33747033382
-
Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life
-
10.1111/j.1365-2133.2006.07472.x, 16911284
-
Holme SA, Anstey AV, Finlay AY, Elder GH, Badminton MN. Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life. Br J Dermatol 2006, 155:574-581. 10.1111/j.1365-2133.2006.07472.x, 16911284.
-
(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
-
8
-
-
67449147376
-
A systematic review of treatment options for dermal photosensitivity in erythropoietic protoporphyria
-
Minder EI, Schneider-Yin X, Steuer J, Bachmann LM. A systematic review of treatment options for dermal photosensitivity in erythropoietic protoporphyria. Cell Mol Biol (Noisy-le-grand) 2009, 55:84-97.
-
(2009)
Cell Mol Biol (Noisy-le-grand)
, vol.55
, pp. 84-97
-
-
Minder, E.I.1
Schneider-Yin, X.2
Steuer, J.3
Bachmann, L.M.4
-
9
-
-
2942608982
-
Assessment of patient-reported outcomes in clinical trials: the example of health-related quality of life
-
10.1111/j.1472-8206.2004.00234.x, 15147288
-
Wiklund I. Assessment of patient-reported outcomes in clinical trials: the example of health-related quality of life. Fundam Clin Pharmacol 2004, 18:351-363. 10.1111/j.1472-8206.2004.00234.x, 15147288.
-
(2004)
Fundam Clin Pharmacol
, vol.18
, pp. 351-363
-
-
Wiklund, I.1
-
10
-
-
55249097179
-
The identification of benefit in medical intervention: an overview and suggestions for process
-
10.1097/MJT.0b013e31816b8fff, 18806527
-
Stang PE, Pham SV, Kinchen K, Raff SB, Mussen F, Gondek K. The identification of benefit in medical intervention: an overview and suggestions for process. Am J Ther 2008, 15:495-503. 10.1097/MJT.0b013e31816b8fff, 18806527.
-
(2008)
Am J Ther
, vol.15
, pp. 495-503
-
-
Stang, P.E.1
Pham, S.V.2
Kinchen, K.3
Raff, S.B.4
Mussen, F.5
Gondek, K.6
-
11
-
-
33947505862
-
Documenting the rationale and psychometric characteristics of patient reported outcomes for labeling and promotional claims: the PRO Evidence Dossier
-
10.1007/s11136-006-9153-5, 17268927
-
Revicki DA, Gnanasakthy A, Weinfurt K. Documenting the rationale and psychometric characteristics of patient reported outcomes for labeling and promotional claims: the PRO Evidence Dossier. Qual Life Res 2007, 16:717-723. 10.1007/s11136-006-9153-5, 17268927.
-
(2007)
Qual Life Res
, vol.16
, pp. 717-723
-
-
Revicki, D.A.1
Gnanasakthy, A.2
Weinfurt, K.3
-
12
-
-
0034464640
-
Recommendations on health-related quality of life research to support labeling and promotional claims in the United States
-
10.1023/A:1008996223999, 11284208
-
Revicki DA, Osoba D, Fairclough D, Barofsky I, Berzon R, Leidy NK, Rothman M. Recommendations on health-related quality of life research to support labeling and promotional claims in the United States. Qual Life Res 2000, 9:887-900. 10.1023/A:1008996223999, 11284208.
-
(2000)
Qual Life Res
, vol.9
, pp. 887-900
-
-
Revicki, D.A.1
Osoba, D.2
Fairclough, D.3
Barofsky, I.4
Berzon, R.5
Leidy, N.K.6
Rothman, M.7
-
13
-
-
33947505862
-
Documenting the rationale and psychometric characteristics of patient reported outcomes for labeling and promotional claims: the PRO Evidence Dossier
-
10.1007/s11136-006-9153-5, 17268927
-
Revicki DA, Gnanasakthy A, Weinfurt K. Documenting the rationale and psychometric characteristics of patient reported outcomes for labeling and promotional claims: the PRO Evidence Dossier. Qual Life Res 2007, 16:717-723. 10.1007/s11136-006-9153-5, 17268927.
-
(2007)
Qual Life Res
, vol.16
, pp. 717-723
-
-
Revicki, D.A.1
Gnanasakthy, A.2
Weinfurt, K.3
-
14
-
-
0029906864
-
Evaluating quality-of-life and health status instruments: development of scientific review criteria
-
10.1016/S0149-2918(96)80054-3, 8930436
-
Lohr KN, Aaronson NK, Alonso J, Burnam MA, Patrick DL, Perrin EB, Roberts JS. Evaluating quality-of-life and health status instruments: development of scientific review criteria. Clin Ther 1996, 18:979-992. 10.1016/S0149-2918(96)80054-3, 8930436.
-
(1996)
Clin Ther
, vol.18
, pp. 979-992
-
-
Lohr, K.N.1
Aaronson, N.K.2
Alonso, J.3
Burnam, M.A.4
Patrick, D.L.5
Perrin, E.B.6
Roberts, J.S.7
-
15
-
-
0024311620
-
Measuring quality of life in clinical trials: a taxonomy and review
-
1269981, 2655856
-
Guyatt GH, Veldhuyzen Van Zanten SJ, Feeny DH, Patrick DL. Measuring quality of life in clinical trials: a taxonomy and review. CMAJ 1989, 140:1441-1448. 1269981, 2655856.
-
(1989)
CMAJ
, vol.140
, pp. 1441-1448
-
-
Guyatt, G.H.1
Veldhuyzen Van Zanten, S.J.2
Feeny, D.H.3
Patrick, D.L.4
-
16
-
-
9944234591
-
Measuring treatment impact: a review of patient-reported outcomes and other efficacy endpoints in approved product labels
-
10.1016/j.cct.2004.09.003, 15588741
-
Willke RJ, Burke LB, Erickson P. Measuring treatment impact: a review of patient-reported outcomes and other efficacy endpoints in approved product labels. Control Clin Trials 2004, 25:535-552. 10.1016/j.cct.2004.09.003, 15588741.
-
(2004)
Control Clin Trials
, vol.25
, pp. 535-552
-
-
Willke, R.J.1
Burke, L.B.2
Erickson, P.3
-
17
-
-
54249168036
-
The Dermatology Life Quality Index 1994-2007: a comprehensive review of validation data and clinical results
-
Basra MK, Fenech R, Gatt RM, Salek MS, Finlay AY. The Dermatology Life Quality Index 1994-2007: a comprehensive review of validation data and clinical results. Br J Dermatol 2008, 159:997-1035.
-
(2008)
Br J Dermatol
, vol.159
, pp. 997-1035
-
-
Basra, M.K.1
Fenech, R.2
Gatt, R.M.3
Salek, M.S.4
Finlay, A.Y.5
-
18
-
-
33947505862
-
Documenting the rationale and psychometric characteristics of patient reported outcomes for labeling and promotional claims: the PRO Evidence Dossier
-
10.1007/s11136-006-9153-5, 17268927
-
Revicki DA, Gnanasakthy A, Weinfurt K. Documenting the rationale and psychometric characteristics of patient reported outcomes for labeling and promotional claims: the PRO Evidence Dossier. Qual Life Res 2007, 16:717-723. 10.1007/s11136-006-9153-5, 17268927.
-
(2007)
Qual Life Res
, vol.16
, pp. 717-723
-
-
Revicki, D.A.1
Gnanasakthy, A.2
Weinfurt, K.3
-
19
-
-
0000078123
-
Recommendations for evaluating the validity of quality of life claims for labeling and promotion
-
10.1046/j.1524-4733.1999.02210.x, 16674343
-
Leidy NK, Revicki DA, Geneste B. Recommendations for evaluating the validity of quality of life claims for labeling and promotion. Value Health 1999, 2:113-127. 10.1046/j.1524-4733.1999.02210.x, 16674343.
-
(1999)
Value Health
, vol.2
, pp. 113-127
-
-
Leidy, N.K.1
Revicki, D.A.2
Geneste, B.3
-
20
-
-
33947505862
-
Documenting the rationale and psychometric characteristics of patient reported outcomes for labeling and promotional claims: the PRO Evidence Dossier
-
10.1007/s11136-006-9153-5, 17268927
-
Revicki DA, Gnanasakthy A, Weinfurt K. Documenting the rationale and psychometric characteristics of patient reported outcomes for labeling and promotional claims: the PRO Evidence Dossier. Qual Life Res 2007, 16:717-723. 10.1007/s11136-006-9153-5, 17268927.
-
(2007)
Qual Life Res
, vol.16
, pp. 717-723
-
-
Revicki, D.A.1
Gnanasakthy, A.2
Weinfurt, K.3
-
21
-
-
33750458327
-
Extending basic principles of measurement models to the design and validation of Patient Reported Outcomes
-
10.1186/1477-7525-4-65, 1590011, 16995937
-
Atkinson MJ, Lennox RD. Extending basic principles of measurement models to the design and validation of Patient Reported Outcomes. Health Qual Life Outcomes 2006, 4:65. 10.1186/1477-7525-4-65, 1590011, 16995937.
-
(2006)
Health Qual Life Outcomes
, vol.4
, pp. 65
-
-
Atkinson, M.J.1
Lennox, R.D.2
-
22
-
-
33750460595
-
Responsiveness and minimal important differences for patient reported outcomes
-
10.1186/1477-7525-4-70, 1586195, 17005038
-
Revicki DA, Cella D, Hays RD, Sloan JA, Lenderking WR, Aaronson NK. Responsiveness and minimal important differences for patient reported outcomes. Health Qual Life Outcomes 2006, 4:70. 10.1186/1477-7525-4-70, 1586195, 17005038.
-
(2006)
Health Qual Life Outcomes
, vol.4
, pp. 70
-
-
Revicki, D.A.1
Cella, D.2
Hays, R.D.3
Sloan, J.A.4
Lenderking, W.R.5
Aaronson, N.K.6
-
23
-
-
37549004786
-
Recommended methods for determining responsiveness and minimally important differences for patient-reported outcomes
-
10.1016/j.jclinepi.2007.03.012, 18177782
-
Revicki D, Hays RD, Cella D, Sloan J. Recommended methods for determining responsiveness and minimally important differences for patient-reported outcomes. J Clin Epidemiol 2008, 61:102-109. 10.1016/j.jclinepi.2007.03.012, 18177782.
-
(2008)
J Clin Epidemiol
, vol.61
, pp. 102-109
-
-
Revicki, D.1
Hays, R.D.2
Cella, D.3
Sloan, J.4
-
24
-
-
37549004786
-
Recommended methods for determining responsiveness and minimally important differences for patient-reported outcomes
-
10.1016/j.jclinepi.2007.03.012, 18177782
-
Revicki D, Hays RD, Cella D, Sloan J. Recommended methods for determining responsiveness and minimally important differences for patient-reported outcomes. J Clin Epidemiol 2008, 61:102-109. 10.1016/j.jclinepi.2007.03.012, 18177782.
-
(2008)
J Clin Epidemiol
, vol.61
, pp. 102-109
-
-
Revicki, D.1
Hays, R.D.2
Cella, D.3
Sloan, J.4
-
25
-
-
2942608982
-
Assessment of patient-reported outcomes in clinical trials: the example of health-related quality of life
-
10.1111/j.1472-8206.2004.00234.x, 15147288
-
Wiklund I. Assessment of patient-reported outcomes in clinical trials: the example of health-related quality of life. Fundam Clin Pharmacol 2004, 18:351-363. 10.1111/j.1472-8206.2004.00234.x, 15147288.
-
(2004)
Fundam Clin Pharmacol
, vol.18
, pp. 351-363
-
-
Wiklund, I.1
-
26
-
-
0041095431
-
Estimation of the reliability of ratings
-
Ebel RL. Estimation of the reliability of ratings. Psychometrika 1951, 16:407-424.
-
(1951)
Psychometrika
, vol.16
, pp. 407-424
-
-
Ebel, R.L.1
-
27
-
-
67449111759
-
Treatment of Erythropoietic Protoporphyria With N-Acetylcysteine-Reply
-
10.1001/archderm.131.3.355, 7887672
-
Mathews-Roth MM, Roberts JE. Treatment of Erythropoietic Protoporphyria With N-Acetylcysteine-Reply. Arch Dermatol 1995, 131:355. 10.1001/archderm.131.3.355, 7887672.
-
(1995)
Arch Dermatol
, vol.131
, pp. 355
-
-
Mathews-Roth, M.M.1
Roberts, J.E.2
-
28
-
-
0036592055
-
Erythropoietic protoporphyria (EPP) at 40. Where are we now?
-
10.1034/j.1600-0781.2002.00708.x, 12207680
-
Sarkany RP. Erythropoietic protoporphyria (EPP) at 40. Where are we now?. Photodermatol Photoimmunol Photomed 2002, 18:147-152. 10.1034/j.1600-0781.2002.00708.x, 12207680.
-
(2002)
Photodermatol Photoimmunol Photomed
, vol.18
, pp. 147-152
-
-
Sarkany, R.P.1
-
29
-
-
0000078123
-
Recommendations for evaluating the validity of quality of life claims for labeling and promotion
-
10.1046/j.1524-4733.1999.02210.x, 16674343
-
Leidy NK, Revicki DA, Geneste B. Recommendations for evaluating the validity of quality of life claims for labeling and promotion. Value Health 1999, 2:113-127. 10.1046/j.1524-4733.1999.02210.x, 16674343.
-
(1999)
Value Health
, vol.2
, pp. 113-127
-
-
Leidy, N.K.1
Revicki, D.A.2
Geneste, B.3
-
30
-
-
0029042892
-
Narrow-band UVB (TL-01) phototherapy: an effective preventative treatment for the photodermatoses
-
Collins P, Ferguson J. Narrow-band UVB (TL-01) phototherapy: an effective preventative treatment for the photodermatoses. Br J Dermatol 1995, 132:956-963.
-
(1995)
Br J Dermatol
, vol.132
, pp. 956-963
-
-
Collins, P.1
Ferguson, J.2
-
31
-
-
0031857909
-
Erythropoietic protoporphyria treated with narrow-band (TL-01) UVB phototherapy
-
10.1111/j.1440-0960.1998.tb01278.x, 9737047
-
Warren LJ, George S. Erythropoietic protoporphyria treated with narrow-band (TL-01) UVB phototherapy. Australas J Dermatol 1998, 39:179-182. 10.1111/j.1440-0960.1998.tb01278.x, 9737047.
-
(1998)
Australas J Dermatol
, vol.39
, pp. 179-182
-
-
Warren, L.J.1
George, S.2
-
32
-
-
58349109469
-
An alpha-melanocyte-stimulating hormone analogue in erythropoietic protoporphyria
-
10.1056/NEJMc0805682, 19144952
-
Harms J, Lautenschlager S, Minder CE, Minder EI. An alpha-melanocyte-stimulating hormone analogue in erythropoietic protoporphyria. N Engl J Med 2009, 360:306-307. 10.1056/NEJMc0805682, 19144952.
-
(2009)
N Engl J Med
, vol.360
, pp. 306-307
-
-
Harms, J.1
Lautenschlager, S.2
Minder, C.E.3
Minder, E.I.4
-
33
-
-
70350493320
-
Mitigating photosensitivity of erythropoietic protoporphyria patients by an agonistic analog of alpha-melanocyte stimulating hormone
-
10.1111/j.1751-1097.2009.00595.x, 19656325
-
Harms JH, Lautenschlager S, Minder CE, Minder EI. Mitigating photosensitivity of erythropoietic protoporphyria patients by an agonistic analog of alpha-melanocyte stimulating hormone. Photochem Photobiol 2009, 85:1434-1439. 10.1111/j.1751-1097.2009.00595.x, 19656325.
-
(2009)
Photochem Photobiol
, vol.85
, pp. 1434-1439
-
-
Harms, J.H.1
Lautenschlager, S.2
Minder, C.E.3
Minder, E.I.4
-
34
-
-
0021045350
-
A New Biometrical Procedure for Testing the Equality of Measurements from Two Different Analytical Methods
-
Passing H, Bablok W. A New Biometrical Procedure for Testing the Equality of Measurements from Two Different Analytical Methods. J Clin Chem Biochem 1983, 21:709-720.
-
(1983)
J Clin Chem Biochem
, vol.21
, pp. 709-720
-
-
Passing, H.1
Bablok, W.2
|