Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter
Könst, Andrea A.M, Lemmers, Richard J.L.F, Oudejans, Cees B.M, Fonds, Dafna, Leegwater, Peter A.J, Vermeulen, Gerre, Pronk, Jan C, van Berkel, Carola G.M, Visser, Allerdien, Mobach, Dragosh, van der Knaap, Marjo S, Schutgens, Ruud B.H, Naidu, Sakkubai, Mulders, Joyce, Kersbergen, Paula, Frants, Rune R
Published in Nature genetics (01.12.2001)
Published in Nature genetics (01.12.2001)
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Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter
van der Knaap, Marjo S., Leegwater, Peter A. J., Könst, Andrea A.M., Visser, Allerdien, Naidu, Sakkubai, Oudejans, Cees B.M., Schutgens, Ruud B.H., Pronk, Jan C.
Published in Annals of neurology (01.02.2002)
Published in Annals of neurology (01.02.2002)
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Subunits of the translation initiation factor eLF2B are mutant in leukoencephalopathy with vanishing white matter
LEEGWATER, Peter A. J, VERMEULEN, Gerre, LEMMERS, Richard J. L. F, FRANTS, Rune R, OUDEJANS, Cees B. M, SCHUTGENS, Ruud B. H, PRONK, Jan C, VAN DER KNAAP, Marjo S, JULIER, Cecile, KÖNST, Andrea A. M, NAIDU, Sakkubai, MULDERS, Joyce, VISSER, Allerdien, KERSBERGEN, Paula, MOBACH, Dragosh, FONDS, Dafna, VAN BERKEL, Carola G. M
Published in Nature genetics (01.12.2001)
Published in Nature genetics (01.12.2001)
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Mutations of MLC1 ( KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical Cysts
Leegwater, Peter A.J., Yuan, Bao Qiang, van der Steen, Jeffrey, Mulders, Joyce, Könst, Andrea A.M., Boor, P. K. Ilja, Mejaski-Bosnjak, Vlatka, van der Maarel, Silvère M., Frants, Rune R., Oudejans, Cees B.M., Schutgens, Ruud B.H., Pronk, Jan C., van der Knaap, Marjo S.
Published in American journal of human genetics (01.04.2001)
Published in American journal of human genetics (01.04.2001)
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Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase
Gibson, K. Michael, Hogema, Boris M, Gupta, Maneesh, Senephansiri, Henry, Burlingame, Terry G, Taylor, Melissa, Jakobs, Cornelis, Schutgens, Ruud B. H, Froestl, Wolfgang, Snead, O. Carter, Diaz-Arrastia, Ramon, Bottiglieri, Teodoro, Grompe, Markus
Published in Nature genetics (01.10.2001)
Published in Nature genetics (01.10.2001)
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2-Methylbutyryl-coenzyme A dehydrogenase deficiency : A new inborn error of L-isoleucine metabolism
GIBSON, K. M, BURLINGAME, T. G, LINCK, L, POHOWALLA, P, SACKS, M, KISS, D, RINALDO, P, VOCKLEY, J, HOGEMA, B, JAKOBS, C, SCHUTGENS, R. B. H, MILLINGTON, D, ROE, C. R, ROE, D. S, SWEETMAN, L, STEINER, R. D
Published in Pediatric research (01.06.2000)
Published in Pediatric research (01.06.2000)
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The Gene for Leukoencephalopathy with Vanishing White Matter Is Located on Chromosome 3q27
Leegwater, Peter A.J., Könst, Andrea A.M., Kuyt, Bertus, Sandkuijl, Lodewijk A., Naidu, SakkuBai, Oudejans, Cees B.M., Schutgens, Ruud B.H., Pronk, Jan C., van der Knaap, Marjo S.
Published in American journal of human genetics (01.09.1999)
Published in American journal of human genetics (01.09.1999)
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Peroxisomal Disorders: A Review
Wanders, Ronald J. A, Schutgens, Ruud B. H, Barth, Peter G
Published in Journal of neuropathology and experimental neurology (01.09.1995)
Published in Journal of neuropathology and experimental neurology (01.09.1995)
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Disclosure of hidden free light chains by immunosubtraction
THELEN, Marc H. M, VAN BEZU, Jan, KOK, Astrid, SCHUTGENS, Ruud B. H
Published in Clinical chemistry (Baltimore, Md.) (01.11.2002)
Published in Clinical chemistry (Baltimore, Md.) (01.11.2002)
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L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease
Barth, P G, Hoffmann, G F, Jaeken, J, Lehnert, W, Hanefeld, F, van Gennip, A H, Duran, M, Valk, J, Schutgens, R B, Trefz, F K
Published in Annals of neurology (01.07.1992)
Published in Annals of neurology (01.07.1992)
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Genetic and biochemical markers for Alzheimer's disease: recent developments
Mulder, C, Scheltens, P, Visser, J J, van Kamp, G J, Schutgens, R B
Published in Annals of clinical biochemistry (01.09.2000)
Published in Annals of clinical biochemistry (01.09.2000)
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Impaired degradation of leukotrienes in patients with peroxisome deficiency disorders
MAYATEPEK, E, LEHMANN, W.-D, FAULER, J, TSIKAS, D, FRÖLICH, J. C, SCHUTGENS, R. B. H, WANDERS, R. J. A, KEPPLER, D
Published in The Journal of clinical investigation (01.03.1993)
Published in The Journal of clinical investigation (01.03.1993)
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Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein : identification by means of complementation analysis
SUZUKI, Y, SHIMOZAWA, N, WANDERS, R. J. A, SCHUTGENS, R. B. H, MOSER, H. W, ORII, T, YAJIMA, S, TOMATSU, S, KONDO, N, NAKADA, Y, AKABOSHI, S, LAI, M, TANABE, Y, HASHIMOTO, T
Published in American journal of human genetics (1994)
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Published in American journal of human genetics (1994)
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Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: report of three cases in comparison with Canavan disease
Topçu, M, Erdem, G, Saatçi, I, Aktan, G, Simşek, A, Renda, Y, Schutgens, R B, Wanders, R J, Jacobs, C
Published in Journal of child neurology (01.09.1996)
Published in Journal of child neurology (01.09.1996)
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Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency
Fukao, T, Yamaguchi, S, Orii, T, Schutgens, R B, Osumi, T, Hashimoto, T
Published in The Journal of clinical investigation (01.02.1992)
Published in The Journal of clinical investigation (01.02.1992)
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Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome)
Heymans, H S, Schutgens, R B, Tan, R, van den Bosch, H, Borst, P
Published in Nature (London) (03.11.1983)
Published in Nature (London) (03.11.1983)
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Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy
Hoffmann, G F, Trefz, F K, Barth, P G, Böhles, H J, Biggemann, B, Bremer, H J, Christensen, E, Frosch, M, Hanefeld, F, Hunneman, D H
Published in Pediatrics (Evanston) (01.12.1991)
Published in Pediatrics (Evanston) (01.12.1991)
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