-
1
-
-
2542560427
-
Hereditary hemochromatosis - A new look at an old disease
-
Pietrangelo A. Hereditary hemochromatosis - a new look at an old disease. N Engl J Med. 2004; 350: 2383-97.
-
(2004)
N Engl J Med
, vol.350
, pp. 2383-2397
-
-
Pietrangelo, A.1
-
2
-
-
79951534566
-
-
http://www.nvkc.nl/kwaliteitsborging/documents/ richtlijnhemochromatosedefinitief2007.pdf
-
-
-
-
3
-
-
0346668234
-
Reference ranges for serum concentrations of LH, FSH, E2, prolactin, progesterone, SHBG, DHEAS, cortisol and ferritin in neonates, children and young adults
-
Elmlinger MW et al. Reference ranges for serum concentrations of LH, FSH, E2, prolactin, progesterone, SHBG, DHEAS, cortisol and ferritin in neonates, children and young adults. Clin Chem Lab Med. 2002; 40: 1151-60.
-
(2002)
Clin Chem Lab Med
, vol.40
, pp. 1151-1160
-
-
Elmlinger, M.W.1
-
4
-
-
33748596869
-
IFCC primary reference procedures for the measurement of the catalytic activity concentrations of enzymes at 37 degrees C
-
IFCC
-
IFCC, Schumann G et al. IFCC primary reference procedures for the measurement of the catalytic activity concentrations of enzymes at 37 degrees C. Clin Chem Lab Med. 2006; 44 (9): 1146-55.
-
(2006)
Clin Chem Lab Med
, vol.44
, Issue.9
, pp. 1146-1155
-
-
Schumann, G.1
-
5
-
-
0032914223
-
Simple multiplex PCR for the simultaneous detection of the C282Y and H63D hemochromatosis (HFE) gene mutations
-
Stott MK, Fellowes AP, Upton JD, Burt MJ, George PM. Simple multiplex PCR for the simultaneous detection of the C282Y and H63D hemochromatosis (HFE) gene mutations. Clin Chem. 1999; 45: 426-8. (Pubitemid 29114186)
-
(1999)
Clinical Chemistry
, vol.45
, Issue.3
, pp. 426-428
-
-
Stott, M.K.1
Fellowes, A.P.2
Upton, J.D.3
Burt, M.J.4
George, P.M.5
-
7
-
-
77957735568
-
Immunochemical and mass-spectrometry-based serum hepcidin assays for iron metabolism disorders
-
Kroot JJ, Laarakkers CM, Geurts-Moespot AJ, Grebenchtchikov N, Pickkers P, van Ede AE, Peters HP, et al. Immunochemical and mass-spectrometry-based serum hepcidin assays for iron metabolism disorders. Clin Chem. 2010; 56 (10): 1570-9.
-
(2010)
Clin Chem
, vol.56
, Issue.10
, pp. 1570-1579
-
-
Kroot, J.J.1
Laarakkers, C.M.2
Geurts-Moespot, A.J.3
Grebenchtchikov, N.4
Pickkers, P.5
Van Ede, A.E.6
Peters, H.P.7
-
8
-
-
38049017421
-
Synopsis of the Dutch multidisciplinary guideline for the diagnosis and treatment of hereditary haemochromatosis
-
Swinkels DW, Jorna AT, Raymakers RA. Synopsis of the Dutch multidisciplinary guideline for the diagnosis and treatment of hereditary haemochromatosis. Neth J Med. 2007; 65: 452-5.
-
(2007)
Neth J Med
, vol.65
, pp. 452-455
-
-
Swinkels, D.W.1
Jorna, A.T.2
Raymakers, R.A.3
-
10
-
-
34447095257
-
Hereditaire hemochromatose: Nieuwe genen, nieuwe ziekten en hepcidine
-
Bergmans JPH, Stalenhoef AFH, Marx JJM, Janssen MCH, Swinkels DW, Jacobs EMG, Kemna EHJM. Hereditaire hemochromatose: nieuwe genen, nieuwe ziekten en hepcidine. Ned Tijdschr Geneesk. 2007; 151: 1121-7. (Pubitemid 47040763)
-
(2007)
Nederlands Tijdschrift Voor Geneeskunde
, vol.151
, Issue.20
, pp. 1121-1127
-
-
Bergmans, J.P.H.1
Kemna, E.H.J.M.2
Janssen, M.C.H.3
Jacobs, E.M.G.4
Stalenhoef, A.F.H.5
Marx, J.J.M.6
Swinkels, D.W.7
-
11
-
-
0034930197
-
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
-
DOI 10.1038/90038
-
Njajou OT, Vaessen N, Joosse M, Berghuis B, van Dongen JW, Breuning MH, et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet. 2001; 28: 213-4. (Pubitemid 32626019)
-
(2001)
Nature Genetics
, vol.28
, Issue.3
, pp. 213-214
-
-
Njajou, O.T.1
Vaessen, N.2
Joosse, M.3
Berghuis, B.4
Van, D.J.W.F.5
Breuning, M.H.6
Snijders, P.J.L.M.7
Rutten, W.P.F.8
Sandkuijl, L.A.9
Oostra, B.A.10
Van, D.C.M.11
Heutink, P.12
-
12
-
-
17944380796
-
Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene
-
DOI 10.1172/JCI200113468
-
Montosi G, Donovan A, Totaro A, Garuti C, Pignatti E, Cassanelli S, Trenor CC, Gasparini P, Andrews NC, Pietrangelo A. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest. 2001; 108: 619-23. (Pubitemid 32777742)
-
(2001)
Journal of Clinical Investigation
, vol.108
, Issue.4
, pp. 619-623
-
-
Montosi, G.1
Donovan, A.2
Totaro, A.3
Garuti, C.4
Pignatti, E.5
Cassanelli, S.6
Trenor, C.C.7
Gasparini, P.8
Andrews, N.C.9
Pietrangelo, A.10
-
13
-
-
77957340866
-
Ferroportin disease: A systematic meta-analysis of clinical and molecular findings
-
Mayr R, Janecke AR, Schranz M, Griffiths WJH, Vogel W, Pietrangelo A, Zoller H. Ferroportin disease: a systematic meta-analysis of clinical and molecular findings. J Hepatology 2010; 53 (5): 941-9.
-
(2010)
J Hepatology
, vol.53
, Issue.5
, pp. 941-949
-
-
Mayr, R.1
Janecke, A.R.2
Schranz, M.3
Griffiths, W.J.H.4
Vogel, W.5
Pietrangelo, A.6
Zoller, H.7
-
14
-
-
32544437693
-
Iron overload due to mutations in ferroportin
-
De Domenico I, Ward DM, Musci G, Kaplan J. Iron overload due tot mutations in ferroportin. Haematologica 2006; 91: 92-5. (Pubitemid 43235391)
-
(2006)
Haematologica
, vol.91
, Issue.1
, pp. 92-95
-
-
De, D.I.1
Ward, D.M.2
Musci, G.3
Kaplan, J.4
-
15
-
-
50049109451
-
Serum hepcidin levels are innately low in HFE-related haemochromatosis but differ between C282Y-homozygotes with elevated and normal ferritin levels
-
Dijk BAC van, Laarakkers CMM, Klaver SM, Jacobs EMG, Tits LJH van, Janssen MCH, Swinkels DW. Serum hepcidin levels are innately low in HFE-related haemochromatosis but differ between C282Y-homozygotes with elevated and normal ferritin levels. Br J Haematol. 2008; 142: 979-85.
-
(2008)
Br J Haematol
, vol.142
, pp. 979-985
-
-
Van Dijk, B.A.C.1
Laarakkers, C.M.M.2
Klaver, S.M.3
Jacobs, E.M.G.4
Van Tits, L.J.H.5
Janssen, M.C.H.6
Swinkels, D.W.7
-
17
-
-
23044508432
-
Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin
-
DOI 10.1182/blood-2005-02-0561
-
Drakesmith H, Schimanski LM, Ormerod E, Merryweather-Clarke AT, Viprakasit V, Edwards JP, Sweetland E, Bastin JM, Cowley D, Chinthammitr Y, Robson KJ, Townsend AR. Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin. Blood. 2005; 106: 1092-7. (Pubitemid 41076459)
-
(2005)
Blood
, vol.106
, Issue.3
, pp. 1092-1097
-
-
Drakesmith, H.1
Schimanski, L.M.2
Ormerod, E.3
Merryweather-Clarke, A.T.4
Viprakasit, V.5
Edwards, J.P.6
Sweetland, E.7
Bastin, J.M.8
Cowley, D.9
Chinthammitr, Y.10
Robson, K.J.H.11
Townsend, A.R.M.12
-
18
-
-
66149145303
-
Regulation of hepcidin and iron-overload disease
-
Review
-
Lee PL, Beutler E. Regulation of hepcidin and iron-overload disease. Annu Rev Pathol. 2009; 4: 489-515. Review.
-
(2009)
Annu Rev Pathol
, vol.4
, pp. 489-515
-
-
Lee, P.L.1
Beutler, E.2
-
19
-
-
34248524176
-
The role of hepcidin and ferroportin in iron absorption
-
Oates PS. The role of hepcidin and ferroportin in iron absorption. Histol Histopathol. 2007; 22: 791-804. (Pubitemid 47034145)
-
(2007)
Histology and Histopathology
, vol.22
, Issue.7-9
, pp. 791-804
-
-
Oates, P.S.1
-
20
-
-
18544389247
-
Ferroportin mutations: A tale of two phenotypes
-
DOI 10.1182/blood-2005-02-0771
-
Nemeth E. Ferroportin mutations: a tale of two phenotypes. Blood. 2005; 105: 3763-4. (Pubitemid 40656113)
-
(2005)
Blood
, vol.105
, Issue.10
, pp. 3763-3764
-
-
Nemeth, E.1
-
21
-
-
19544386871
-
Hepcidin in iron overload disorders
-
Papanikolaou G, Tzilianos M, Christakis JI, Bogdanos D, Tsimirika K, MacFarlane J et al. Hepcidin in iron overload disorders. Blood. 2005; 105: 4103-5.
-
(2005)
Blood
, vol.105
, pp. 4103-4105
-
-
Papanikolaou, G.1
Tzilianos, M.2
Christakis, J.I.3
Bogdanos, D.4
Tsimirika, K.5
MacFarlane, J.6
-
22
-
-
28444466958
-
Understanding iron homeostasis through genetic analysis of hemochromatosis and related disorders
-
DOI 10.1182/blood-2005-05-1857
-
Camaschella C. Understanding iron homeostasis through genetic analysis of hemochromatosis and related disorders. Blood. 2005; 106: 3710-7. (Pubitemid 41739004)
-
(2005)
Blood
, vol.106
, Issue.12
, pp. 3710-3717
-
-
Camaschella, C.1
-
23
-
-
67651083585
-
Hereditary hemochromatosis due to resistance to hepcidin: High hepcidin concentrations in a family with C326S ferroportin mutation
-
Sham RL, Phatak PD, Nemeth E, Ganz T. Hereditary hemochromatosis due to resistance to hepcidin: high hepcidin concentrations in a family with C326S ferroportin mutation. Blood. 2009; 114: 493-4.
-
(2009)
Blood
, vol.114
, pp. 493-494
-
-
Sham, R.L.1
Phatak, P.D.2
Nemeth, E.3
Ganz, T.4
-
24
-
-
13844270538
-
Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features
-
DOI 10.1016/j.bcmd.2004.12.002
-
Sham RL, Phatak PD, West C, Lee P, Andrews C, Beutler E. Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features. Blood Cells Mol Dis. 2005; 34: 157-61. (Pubitemid 40250491)
-
(2005)
Blood Cells, Molecules, and Diseases
, vol.34
, Issue.2
, pp. 157-161
-
-
Sham, R.L.1
Phatak, P.D.2
West, C.3
Lee, P.4
Andrews, C.5
Beutler, E.6
|