-
3
-
-
1842457730
-
Mevalonate kinase deficiency - Evidence for a phenotypic continuum
-
15037710
-
Mevalonate kinase deficiency - Evidence for a phenotypic continuum. A Simon HP Kremer RA Wevers H Scheffer JG De Jong JW Van Der Meer JP Drenth, Neurology 2004 62 994 997 15037710
-
(2004)
Neurology
, vol.62
, pp. 994-997
-
-
Simon, A.1
Kremer, H.P.2
Wevers, R.A.3
Scheffer, H.4
De Jong, J.G.5
Van Der Meer, J.W.6
Drenth, J.P.7
-
4
-
-
0027529504
-
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria
-
8386351
-
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. GF Hoffmann C Charpentier E Mayatepek J Mancini M Leichsenring KM Gibson P Divry M Hrebicek W Lehnert K Sartor, Pediatrics 1993 91 915 921 8386351
-
(1993)
Pediatrics
, vol.91
, pp. 915-921
-
-
Hoffmann, G.F.1
Charpentier, C.2
Mayatepek, E.3
Mancini, J.4
Leichsenring, M.5
Gibson, K.M.6
Divry, P.7
Hrebicek, M.8
Lehnert, W.9
Sartor, K.10
-
5
-
-
0037317621
-
Mevalonate kinase deficiency -enlarging the clinical and biochemical spectrum
-
10.1542/peds.111.2.258. 12563048
-
Mevalonate kinase deficiency -enlarging the clinical and biochemical spectrum. V Prietsch E Mayatepek H Krastel D Haas D Zundel HR Waterham RJ Wanders KM Gibson GF Hoffmann, Pediatrics 2003 111 258 261 10.1542/peds.111.2. 258 12563048
-
(2003)
Pediatrics
, vol.111
, pp. 258-261
-
-
Prietsch, V.1
Mayatepek, E.2
Krastel, H.3
Haas, D.4
Zundel, D.5
Waterham, H.R.6
Wanders, R.J.7
Gibson, K.M.8
Hoffmann, G.F.9
-
6
-
-
0035856896
-
Hereditary periodic fever
-
10.1056/NEJMra010200. 11742050
-
Hereditary periodic fever. JP Drenth JW van den Meer, N Engl J Med 2001 345 1748 1757 10.1056/NEJMra010200 11742050
-
(2001)
N Engl J Med
, vol.345
, pp. 1748-1757
-
-
Drenth, J.P.1
Van Den Meer, J.W.2
-
7
-
-
0035063676
-
Organisation of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome
-
10.1038/sj.ejhg.5200595. 11313768
-
Organisation of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome. SM Houten J Koster GJ Romeijn J Frenkel M Di Rocco U Caruso P Landrieu RI Kelley W Kuis BT Poll-The KM Gibson RJA Wanders HR Waterham, Eur J Hum Genet 2001 9 253 259 10.1038/sj.ejhg.5200595 11313768
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 253-259
-
-
Houten, S.M.1
Koster, J.2
Romeijn, G.J.3
Frenkel, J.4
Di Rocco, M.5
Caruso, U.6
Landrieu, P.7
Kelley, R.I.8
Kuis, W.9
Poll-The, B.T.10
Gibson, K.M.11
Wanders, R.J.A.12
Waterham, H.R.13
-
8
-
-
0035055571
-
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome
-
10.1038/sj.ejhg.5200614. 11313769
-
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. L Cuisset JP Drenth A Simon MF Vincent S van der Velde Visser JW van der Meer G Grateau M Delpech, Eur J Hum Genet 2001 9 260 266 10.1038/sj.ejhg.5200614 11313769
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 260-266
-
-
Cuisset, L.1
Drenth, J.P.2
Simon, A.3
Vincent, M.F.4
Van Der Velde Visser, S.5
Van Der Meer, J.W.6
Grateau, G.7
Delpech, M.8
-
9
-
-
1842869873
-
Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome
-
10.1093/hmg/11.25.3115. 12444096
-
Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome. SM Houten J Frenkel GT Rijkers RJ Wanders W Kuis HR Waterham, Hum Mol Genet 2002 11 3115 3124 10.1093/hmg/11.25.3115 12444096
-
(2002)
Hum Mol Genet
, vol.11
, pp. 3115-3124
-
-
Houten, S.M.1
Frenkel, J.2
Rijkers, G.T.3
Wanders, R.J.4
Kuis, W.5
Waterham, H.R.6
-
10
-
-
0031830467
-
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency
-
10.1002/(SICI)1096-8628(19980806)78:5<408::AID-AJMG3>3.0.CO;2-H. 9714005
-
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency. DD Hinson ZR Rogers GF Hoffmann M Schächtele R Fingerhut A Kohlschütter RI Kelley KM Gibson, Am J Med Genet 1998 78 408 412 10.1002/(SICI)1096-8628(19980806)78:5<408::AID- AJMG3>3.0.CO;2-H 9714005
-
(1998)
Am J Med Genet
, vol.78
, pp. 408-412
-
-
Hinson, D.D.1
Rogers, Z.R.2
Hoffmann, G.F.3
Schächtele, M.4
Fingerhut, R.5
Kohlschütter, A.6
Kelley, R.I.7
Gibson, K.M.8
-
12
-
-
0027280656
-
Mevalonic aciduria in 3 siblings: A new recognizable metabolic encephalopathy
-
10.1016/0887-8994(93)90095-T. 8352861
-
Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy. J Mancini N Philip B Chabrol P Divry MO Rolland N Pinsard, Pediatr Neurol 1993 9 243 246 10.1016/0887-8994(93)90095-T 8352861
-
(1993)
Pediatr Neurol
, vol.9
, pp. 243-246
-
-
Mancini, J.1
Philip, N.2
Chabrol, B.3
Divry, P.4
Rolland, M.O.5
Pinsard, N.6
-
13
-
-
0034987162
-
Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D
-
10.1093/rheumatology/40.5.579. 11371670
-
Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D. J Frenkel SM Houten HR Waterham RJ Wanders GT Rijkers M Duran TW Kuijpers W van Luijk BT Poll-The W Kuis, Rheumatology (Oxford) 2001 40 579 584 10.1093/rheumatology/40.5.579 11371670
-
(2001)
Rheumatology (Oxford)
, vol.40
, pp. 579-584
-
-
Frenkel, J.1
Houten, S.M.2
Waterham, H.R.3
Wanders, R.J.4
Rijkers, G.T.5
Duran, M.6
Kuijpers, T.W.7
Van Luijk, W.8
Poll-The, B.T.9
Kuis, W.10
-
14
-
-
0025761722
-
Facts and artefacts in mevalonic aciduria: Development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection
-
10.1016/0009-8981(91)90355-G. 1653652
-
Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection. GF Hoffmann L Sweetman HJ Bremer DH Hunneman J Hyanek V Kozich W Lehnert WL Nyhan I Speidel FK Trefz, Clin Chim Acta 1991 198 209 227 10.1016/0009-8981(91) 90355-G 1653652
-
(1991)
Clin Chim Acta
, vol.198
, pp. 209-227
-
-
Hoffmann, G.F.1
Sweetman, L.2
Bremer, H.J.3
Hunneman, D.H.4
Hyanek, J.5
Kozich, V.6
Lehnert, W.7
Nyhan, W.L.8
Speidel, I.9
Trefz, F.K.10
-
15
-
-
0034564537
-
Inborn errors of cholesterol biosynthesis
-
10959439
-
Inborn errors of cholesterol biosynthesis. RI Kelley, Adv Pediatr 2000 47 1 53 10959439
-
(2000)
Adv Pediatr
, vol.47
, pp. 1-53
-
-
Kelley, R.I.1
-
16
-
-
0024554422
-
Mevalonate kinase in lysates of cultured human fibroblasts and lymphoblasts: Kinetic properties, assay conditions, carrier detection and measurement of residual activity in a patient with mevalonic aciduria
-
2543551
-
Mevalonate kinase in lysates of cultured human fibroblasts and lymphoblasts: kinetic properties, assay conditions, carrier detection and measurement of residual activity in a patient with mevalonic aciduria. KM Gibson JL Lohr RL Broock G Hoffmann WL Nyhan L Sweetman IK Brandt RS Wappner PI Bader, Enzyme 1989 41 47 55 2543551
-
(1989)
Enzyme
, vol.41
, pp. 47-55
-
-
Gibson, K.M.1
Lohr, J.L.2
Broock, R.L.3
Hoffmann, G.4
Nyhan, W.L.5
Sweetman, L.6
Brandt, I.K.7
Wappner, R.S.8
Bader, P.I.9
-
17
-
-
0026736845
-
Mevalonate kinase assay using DEAE-cellulose column chromatography and complementation analysis in mevalonic aciduria
-
10.1007/BF01800016. 1331607
-
Mevalonate kinase assay using DEAE-cellulose column chromatography and complementation analysis in mevalonic aciduria. GF Hoffmann SU Brendel SR Scharfschwerdt YS Shin IM Speidel KM Gibson, J Inherit Metab Dis 1992 15 738 746 10.1007/BF01800016 1331607
-
(1992)
J Inherit Metab Dis
, vol.15
, pp. 738-746
-
-
Hoffmann, G.F.1
Brendel, S.U.2
Scharfschwerdt, S.R.3
Shin, Y.S.4
Speidel, I.M.5
Gibson, K.M.6
-
18
-
-
0027267216
-
Enhanced urinary excretion of leukotriene E4 in patients with mevalonate kinase deficiency
-
10.1016/S0022-3476(05)81548-3. 8391572
-
Enhanced urinary excretion of leukotriene E4 in patients with mevalonate kinase deficiency. E Mayatepek GF Hoffmann HJ Bremer, J Pediatr 1993 123 96 98 10.1016/S0022-3476(05)81548-3 8391572
-
(1993)
J Pediatr
, vol.123
, pp. 96-98
-
-
Mayatepek, E.1
Hoffmann, G.F.2
Bremer, H.J.3
-
20
-
-
0032987982
-
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
-
10.1038/9691. 10369261
-
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. SM Houten W Kuis M Duran TJ de Koning A van Royen-Kerkhof GJ Romeijn J Frenkel L Dorland MM de Barse WA Huijbers GT Rijkers HR Waterham RJ Wanders BT Poll-The, Nature Genet 1999 22 175 177 10.1038/9691 10369261
-
(1999)
Nature Genet
, vol.22
, pp. 175-177
-
-
Houten, S.M.1
Kuis, W.2
Duran, M.3
De Koning, T.J.4
Van Royen-Kerkhof, A.5
Romeijn, G.J.6
Frenkel, J.7
Dorland, L.8
De Barse, M.M.9
Huijbers, W.A.10
Rijkers, G.T.11
Waterham, H.R.12
Wanders, R.J.13
Poll-The, B.T.14
-
22
-
-
2642580946
-
Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: A low-penetrance TNFRSF1A variant in a heterzygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa
-
10.1002/art.20264. 15188372
-
Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterzygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa. S Stojanov P Lohse P Lohse F Hoffmann ED Renner S Zellerer A Kery YS Shin D Haas GF Hoffmann BH Belohradsky, Arthritis Rheum 2004 50 1951 1958 10.1002/art.20264 15188372
-
(2004)
Arthritis Rheum
, vol.50
, pp. 1951-1958
-
-
Stojanov, S.1
Lohse, P.2
Lohse, P.3
Hoffmann, F.4
Renner, E.D.5
Zellerer, S.6
Kery, A.7
Shin, Y.S.8
Haas, D.9
Hoffmann, G.F.10
Belohradsky, B.H.11
-
23
-
-
0034884697
-
Inherited disorders of cholesterol biosynthesis
-
10.1055/s-2001-16618. 11521206
-
Inherited disorders of cholesterol biosynthesis. D Haas RI Kelley GF Hoffmann, Neuropediatrics 2001 32 113 122 10.1055/s-2001-16618 11521206
-
(2001)
Neuropediatrics
, vol.32
, pp. 113-122
-
-
Haas, D.1
Kelley, R.I.2
Hoffmann, G.F.3
-
24
-
-
2042501706
-
Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome
-
10.1016/j.clpt.2004.01.012. 15116060
-
Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. A Simon E Drewe JWM van der Meer RJ Powell RI Kelley AF Stalenhoef JPH Drenth, Clin Pharmacol Ther 2004 75 476 483 10.1016/j.clpt.2004.01.012 15116060
-
(2004)
Clin Pharmacol Ther
, vol.75
, pp. 476-483
-
-
Simon, A.1
Drewe, E.2
Van Der Meer, J.W.M.3
Powell, R.J.4
Kelley, R.I.5
Stalenhoef, A.F.6
Drenth, J.P.H.7
-
25
-
-
23844552119
-
Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: Introducing a vaccination provocation model
-
16093577
-
Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model. EJ Bodar JCH van der Hilst Drenth JWMJPH van der Meer A Simon, Neth J Med 2005 63 260 264 16093577
-
(2005)
Neth J Med
, vol.63
, pp. 260-264
-
-
Bodar, E.J.1
Van Der Hilst, J.C.H.2
Drenth3
Van Der Meer, J.W.M.J.P.4
Simon, A.5
-
26
-
-
34248357026
-
MVK mutations and associated clinical features in Italian patients affected with autoinflammatroy disorders and recurrent fever
-
10.1038/sj.ejhg.5201139
-
MVK mutations and associated clinical features in Italian patients affected with autoinflammatroy disorders and recurrent fever. A D'Osualdo P Picco F Caroli M Gattorno R Giacchino P Fortini F Corona A Tommasini G Salvi F Specchia L Obici A Meini A Ricci M Seri R Ravazzolo A Martini I Ceccherini, Eur J Hum Genet 2004 12 1 7 10.1038/sj.ejhg.5201139
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 1-7
-
-
D'Osualdo, A.1
Picco, P.2
Caroli, F.3
Gattorno, M.4
Giacchino, R.5
Fortini, P.6
Corona, F.7
Tommasini, A.8
Salvi, G.9
Specchia, F.10
Obici, L.11
Meini, A.12
Ricci, A.13
Seri, M.14
Ravazzolo, R.15
Martini, A.16
Ceccherini, I.17
-
27
-
-
0034926357
-
Increased urinary leukotriene E(4) during febrile attacks in the hyperimmunoglobulinaemia D and periodic fever syndrome
-
10.1136/adc.85.2.158. 11466192
-
Increased urinary leukotriene E(4) during febrile attacks in the hyperimmunoglobulinaemia D and periodic fever syndrome. J Frenkel MA Willemsen CM Weemaes L Dorland E Mayatepek, Arch Dis Child 2001 85 158 159 10.1136/adc.85.2.158 11466192
-
(2001)
Arch Dis Child
, vol.85
, pp. 158-159
-
-
Frenkel, J.1
Willemsen, M.A.2
Weemaes, C.M.3
Dorland, L.4
Mayatepek, E.5
|