-
1
-
-
0038409903
-
Alpha-oxidation of 3-methyl-substituted fatty acids and its thiamine dependence
-
Casteels M., Foulon V., Mannaerts G.P., and Van Veldhoven P.P., 2003, Alpha-oxidation of 3-methyl-substituted fatty acids and its thiamine dependence. Eur. J. Biochem. 270: 1619-1627.
-
(2003)
Eur. J. Biochem.
, vol.270
, pp. 1619-1627
-
-
Casteels, M.1
Foulon, V.2
Mannaerts, G.P.3
Van Veldhoven, P.P.4
-
2
-
-
0033973970
-
Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy
-
Ferdinandusse S., Denis S., Clayton P.T., Graham A., Rees J.E., Allen J.T., Mclean B.N., Brown A.Y., Vreken P., Waterham H.R. and Wanders R.J.A., 2000, Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Nat. Genet. 24: 188-191.
-
(2000)
Nat. Genet.
, vol.24
, pp. 188-191
-
-
Ferdinandusse, S.1
Denis, S.2
Clayton, P.T.3
Graham, A.4
Rees, J.E.5
Allen, J.T.6
Mclean, B.N.7
Brown, A.Y.8
Vreken, P.9
Waterham, H.R.10
Wanders, R.J.A.11
-
3
-
-
18344363895
-
Reinvestigation of Peroxisomal 3-Ketoacyl-CoA Thiolase Deficiency: Identification of the True Defect at the Level of D-Bifunctional Protein
-
Ferdinandusse S., van Grunsven E.G., Oostheim W., Denis S., Hogenhout E.M., IJlst L., van Roermund C.W., Waterham H.R., Goldfischer S., Wanders R.J.A., 2002, Reinvestigation of Peroxisomal 3-Ketoacyl-CoA Thiolase Deficiency: Identification of the True Defect at the Level of D-Bifunctional Protein. Am. J. Hum. Genet. 70: 1589-1593.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 1589-1593
-
-
Ferdinandusse, S.1
Van Grunsven, E.G.2
Oostheim, W.3
Denis, S.4
Hogenhout, E.M.5
IJlst, L.6
Van Roermund, C.W.7
Waterham, H.R.8
Goldfischer, S.9
Wanders, R.J.A.10
-
4
-
-
0022626531
-
Pseudo-Zellweger syndrome: Deficiencies in several peroxisomal oxidative activities
-
Goldfischer S., Collins J., Rapin I., Neumann P., Neglia W., Spiro A.J., Ishii T., Roels F., Vamecq J. and Van Hoof F., 1986, Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities. J. Pediatr. 108: 25-32.
-
(1986)
J. Pediatr.
, vol.108
, pp. 25-32
-
-
Goldfischer, S.1
Collins, J.2
Rapin, I.3
Neumann, P.4
Neglia, W.5
Spiro, A.J.6
Ishii, T.7
Roels, F.8
Vamecq, J.9
Van Hoof, F.10
-
5
-
-
0034193437
-
Human phytanoyl-CoA hydroxylase: Resolution of the gene structure and the molecular basis of Refsum's disease
-
Jansen G.A., Hogenhout E.M., Ferdinandusse S., Waterham H.R., Ofman R., Jakobs C., Skjeldal O.H. and Wanders R.J.A., 2000, Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease. Hum. Mol. Genet. 9: 1195-1200.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1195-1200
-
-
Jansen, G.A.1
Hogenhout, E.M.2
Ferdinandusse, S.3
Waterham, H.R.4
Ofman, R.5
Jakobs, C.6
Skjeldal, O.H.7
Wanders, R.J.A.8
-
6
-
-
0030745425
-
Phytanoyl-Coenzyme A hydroxylase deficiency - The enzyme defect in Refsum's disease
-
Jansen G.A., Wanders R.J.A., Watkins P.A., Mihalik S.J., 1997, Phytanoyl-Coenzyme A hydroxylase deficiency - the enzyme defect in Refsum's disease. N. Engl. J. Med. 337: 133-134.
-
(1997)
N. Engl. J. Med.
, vol.337
, pp. 133-134
-
-
Jansen, G.A.1
Wanders, R.J.A.2
Watkins, P.A.3
Mihalik, S.J.4
-
7
-
-
0019605416
-
Properties of peroxisomal 3-ketoacyl-CoA thiolase from rat liver
-
Miyazawa S., Furuta S., Osumi T., Hashimoto T., Ui N., 1981, Properties of peroxisomal 3-ketoacyl-CoA thiolase from rat liver. J. Biochem. (Tokyo) 90: 511-519.
-
(1981)
J. Biochem. (Tokyo)
, vol.90
, pp. 511-519
-
-
Miyazawa, S.1
Furuta, S.2
Osumi, T.3
Hashimoto, T.4
Ui, N.5
-
8
-
-
0002277381
-
X-linked adrenoleukodystrophy
-
(C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, eds.), McGraw Hill, New York
-
Moser, H. W., Smith, K. D., Watkins, P. A., Powers, J., and Moser, A. B., 2000, X-linked adrenoleukodystrophy. In The Metabolic and Molecular Bases of Inherited Disease (C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, eds.), McGraw Hill, New York.
-
(2000)
The Metabolic and Molecular Bases of Inherited Disease
-
-
Moser, H.W.1
Smith, K.D.2
Watkins, P.A.3
Powers, J.4
Moser, A.B.5
-
9
-
-
0023251298
-
Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency
-
Schram A.W., Goldfischer S., van Roermund C.W.T., Brouwer-Kelder E.M., Collins J., Hashimoto T., Heymans H.S.A., van den Bosch H., Schutgens R.B.H., Tager J.M., Wanders R.J.A., 1987, Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency. Proc. Natl Acad. Sci. U.S.A. 84: 2494-2496.
-
(1987)
Proc. Natl Acad. Sci. U.S.A.
, vol.84
, pp. 2494-2496
-
-
Schram, A.W.1
Goldfischer, S.2
Van Roermund, C.W.T.3
Brouwer-Kelder, E.M.4
Collins, J.5
Hashimoto, T.6
Heymans, H.S.A.7
Van Den Bosch, H.8
Schutgens, R.B.H.9
Tager, J.M.10
Wanders, R.J.A.11
-
10
-
-
0037219301
-
Liver disease caused by failure to racemize trihydroxycholestanoic acid: Gene mutation and effect of bile acid therapy
-
Setchell K.D., Heubi J.E., Bove K.E., O'Connell N.C., Brewsaugh T., Steinberg S.J., Moser A., Squires R.H. Jr., 2003, Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy. Gastroenterology 124: 217-232.
-
(2003)
Gastroenterology
, vol.124
, pp. 217-232
-
-
Setchell, K.D.1
Heubi, J.E.2
Bove, K.E.3
O'Connell, N.C.4
Brewsaugh, T.5
Steinberg, S.J.6
Moser, A.7
Squires Jr., R.H.8
-
11
-
-
0031279890
-
D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: A newly identified peroxisomal disorder
-
Suzuki Y., Jiang L.L., Souri M., Miyazawa S., Fukuda S., Zhang Z., Une M., Shimozawa N., Kondo N., Orii T., Hashimoto T., 1997, D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder. Am. J. Hum. Genet. 61: 1153-1162.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 1153-1162
-
-
Suzuki, Y.1
Jiang, L.L.2
Souri, M.3
Miyazawa, S.4
Fukuda, S.5
Zhang, Z.6
Une, M.7
Shimozawa, N.8
Kondo, N.9
Orii, T.10
Hashimoto, T.11
-
12
-
-
0037318856
-
Identification of PEX7 as the Second Gene Involved in Refsum Disease
-
van den Brink D.M., Brites P., Haasjes J., Wierzbicki A.S., Mitchell J., Lambert-Hamill M., de Belleroche J., Jansen G.A., Waterham H.R., Wanders R.J.A., 2003, Identification of PEX7 as the Second Gene Involved in Refsum Disease. Am. J. Hum. Genet. 72: 471-477.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 471-477
-
-
Van Den Brink, D.M.1
Brites, P.2
Haasjes, J.3
Wierzbicki, A.S.4
Mitchell, J.5
Lambert-Hamill, M.6
De Belleroche, J.7
Jansen, G.A.8
Waterham, H.R.9
Wanders, R.J.A.10
-
13
-
-
0032816205
-
Enoyl-CoA hydratase deficiency: Identification of an new type of D-bifunctional protein deficiency
-
van Grunsven E.G., Mooijer P.A.W., Aubourg P., Wanders R.J.A., 1999b, Enoyl-CoA hydratase deficiency: identification of an new type of D-bifunctional protein deficiency. Hum. Mol. Genet. 8: 1509-1516.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1509-1516
-
-
Van Grunsven, E.G.1
Mooijer, P.A.W.2
Aubourg, P.3
Wanders, R.J.A.4
-
14
-
-
13144277564
-
Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency, resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency
-
van Grunsven E.G., van Berkel E., IJlst L., Vreken P., de Klerk J.B., Adamski J., Lemonde H., Clayton P.T., Cuebas D.A., Wanders R.J.A., 1998, Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency, resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. Proc. Natl Acad. Sci. U.S.A. 95: 2128-2133.
-
(1998)
Proc. Natl Acad. Sci. U.S.A.
, vol.95
, pp. 2128-2133
-
-
Van Grunsven, E.G.1
Van Berkel, E.2
IJlst, L.3
Vreken, P.4
De Klerk, J.B.5
Adamski, J.6
Lemonde, H.7
Clayton, P.T.8
Cuebas, D.A.9
Wanders, R.J.A.10
-
15
-
-
0033360997
-
Peroxisomal Bifunctional Protein Deficiency Revisited: Resolution of Its True Enzymatic and Molecular Basis
-
van Grunsven E.G., van Berkel E., Mooijer P.A.W., Watkins P.A., Moser H.W., Suzuki Y., Jiang L.L., Hashimoto T., Hoefler G., Adamski J., Wanders R.J.A., 1999a, Peroxisomal Bifunctional Protein Deficiency Revisited: Resolution of Its True Enzymatic and Molecular Basis. Am. J. Hum. Genet. 64: 99-107.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 99-107
-
-
Van Grunsven, E.G.1
Van Berkel, E.2
Mooijer, P.A.W.3
Watkins, P.A.4
Moser, H.W.5
Suzuki, Y.6
Jiang, L.L.7
Hashimoto, T.8
Hoefler, G.9
Adamski, J.10
Wanders, R.J.A.11
-
16
-
-
0031560948
-
Complementation analysis of fibroblasts from peroxisomal fatty acid oxidation deficient patients shows high frequency of bifunctional enzyme deficiency plus intragenic complementation: Unequivocal evidence for differential defects in the same enzyme protein
-
van Grunsven E.G., van Roermund C.W.T., Denis S., Wanders R.J.A., 1997, Complementation analysis of fibroblasts from peroxisomal fatty acid oxidation deficient patients shows high frequency of bifunctional enzyme deficiency plus intragenic complementation: unequivocal evidence for differential defects in the same enzyme protein. Biochem. Biophys. Res. Commun. 235: 176-179.
-
(1997)
Biochem. Biophys. Res. Commun.
, vol.235
, pp. 176-179
-
-
Van Grunsven, E.G.1
Van Roermund, C.W.T.2
Denis, S.3
Wanders, R.J.A.4
-
17
-
-
0034864582
-
Fibroblast studies documenting a case of peroxisomal 2-methylacyl-CoA racemase deficiency: Possible link between racemase deficiency and malabsorption and vitamin K deficiency
-
Van Veldhoven P.P., Meyhi E., Squires R.H., Fransen M., Fournier B., Brys V., Bennett M.J., Mannaerts G.P., 2001, Fibroblast studies documenting a case of peroxisomal 2-methylacyl-CoA racemase deficiency: possible link between racemase deficiency and malabsorption and vitamin K deficiency. Eur. J. Clin. Invest 31: 714-722.
-
(2001)
Eur. J. Clin. Invest
, vol.31
, pp. 714-722
-
-
Van Veldhoven, P.P.1
Meyhi, E.2
Squires, R.H.3
Fransen, M.4
Fournier, B.5
Brys, V.6
Bennett, M.J.7
Mannaerts, G.P.8
-
18
-
-
0036433247
-
Identification of human PMP34 as a peroxisomal ATP transporter
-
Visser W.F., van Roermund C.W.T., Waterham H.R., Wanders R.J.A., 2002, Identification of human PMP34 as a peroxisomal ATP transporter. Biochem. Biophys. Res. Commun. 299: 494-497.
-
(2002)
Biochem. Biophys. Res. Commun.
, vol.299
, pp. 494-497
-
-
Visser, W.F.1
Van Roermund, C.W.T.2
Waterham, H.R.3
Wanders, R.J.A.4
-
21
-
-
0037451008
-
Phytanic acid alpha-oxidation, new insights into an old problem: A review
-
Wanders R.J.A., Jansen G.A., Lloyd M.D., 2003, Phytanic acid alpha-oxidation, new insights into an old problem: a review. Biochim. Biophys. Acta. 1631: 119-135.
-
(2003)
Biochim. Biophys. Acta
, vol.1631
, pp. 119-135
-
-
Wanders, R.J.A.1
Jansen, G.A.2
Lloyd, M.D.3
-
22
-
-
0034764947
-
Refsum disease, peroxisomes and phytanic acid oxidation: A review
-
Wanders R.J.A., Jansen G.A., Skjeldal O.H., 2001, Refsum disease, peroxisomes and phytanic acid oxidation: a review. J. Neuropathol. Exp. Neurol. 60: 1021-1031.
-
(2001)
J. Neuropathol. Exp. Neurol.
, vol.60
, pp. 1021-1031
-
-
Wanders, R.J.A.1
Jansen, G.A.2
Skjeldal, O.H.3
-
23
-
-
0034956080
-
Peroxisomal fatty acid alpha- and beta-oxidation in humans: Enzymology, peroxisomal metabolite transporters and peroxisomal diseases
-
Wanders R.J.A., Vreken P., Ferdinandusse S., Jansen G.A., Waterham H.R., van Roermund C.W.T., van Grunsven E.G., 2001, Peroxisomal fatty acid alpha-and beta-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases. Biochem. Soc. Trans. 29: 250-267.
-
(2001)
Biochem. Soc. Trans.
, vol.29
, pp. 250-267
-
-
Wanders, R.J.A.1
Vreken, P.2
Ferdinandusse, S.3
Jansen, G.A.4
Waterham, H.R.5
Van Roermund, C.W.T.6
Van Grunsven, E.G.7
-
24
-
-
0024554078
-
Peroxisomal bifunctional enzyme deficiency
-
Watkins P.A., Chen W.W., Harris C.J., Hoefler G., Hoefler S., Blake D.C. Jr., Balfe A., Kelley R.I., Moser A.B., Beard M.E., 1989 Peroxisomal bifunctional enzyme deficiency. J. Clin. Invest. 83: 771-777.
-
(1989)
J. Clin. Invest.
, vol.83
, pp. 771-777
-
-
Watkins, P.A.1
Chen, W.W.2
Harris, C.J.3
Hoefler, G.4
Hoefler, S.5
Blake Jr., D.C.6
Balfe, A.7
Kelley, R.I.8
Moser, A.B.9
Beard, M.E.10
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