Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis
Grünewald, S., Imbach, T., Huijben, K., Rubio-Gozalbo, M. E., Verrips, A., De Klerk, J. B. C., Stroink, H., De Rijk-Van Andel, J. F., Van Hove, J. L. K., Wendel, U., Matthijs, G., Hennet, T., Jaeken, J., Wevers, R. A.
Published in Annals of neurology (01.06.2000)
Published in Annals of neurology (01.06.2000)
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Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: An updated nomenclature for CDG
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Published in Glycoconjugate journal (01.11.1999)
Published in Glycoconjugate journal (01.11.1999)
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Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie
Imbach, T, Schenk, B, Schollen, E, Burda, P, Stutz, A, Grunewald, S, Bailie, N M, King, M D, Jaeken, J, Matthijs, G, Berger, E G, Aebi, M, Hennet, T
Published in The Journal of clinical investigation (01.01.2000)
Published in The Journal of clinical investigation (01.01.2000)
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MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If
Schenk, B, Imbach, T, Frank, C G, Grubenmann, C E, Raymond, G V, Hurvitz, H, Korn-Lubetzki, I, Revel-Vik, S, Raas-Rotschild, A, Luder, A S, Jaeken, J, Berger, E G, Matthijs, G, Hennet, T, Aebi, M
Published in The Journal of clinical investigation (01.12.2001)
Published in The Journal of clinical investigation (01.12.2001)
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A Mutation in the Human Ortholog of the Saccharomyces cerevisiae ALG6 Gene Causes Carbohydrate-Deficient Glycoprotein Syndrome Type-Ic
Imbach, Timo, Burda, Patricie, Kuhnert, Peter, Wevers, Ron A., Aebi, Markus, Berger, Eric G., Hennet, Thierry
Published in Proceedings of the National Academy of Sciences - PNAS (08.06.1999)
Published in Proceedings of the National Academy of Sciences - PNAS (08.06.1999)
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Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic
IMBACH, T, GRÜNEWALD, S, AEBI, M, HENNET, T, SCHENK, B, BURDA, P, SCHOLLEN, E, WEVERS, R. A, JAEKEN, J, DE KLERK, J. B. C, BERGER, E. G, MATTHIJS, G
Published in Human genetics (01.05.2000)
Published in Human genetics (01.05.2000)
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MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If
Schenk, Barbara, Imbach, Timo, Frank, Christian G., Grubenmann, Claudia E., Raymond, Gerald V., Hurvitz, Haggit, Raas-Rotschild, Annick, Luder, Anthony S., Jaeken, Jaak, Berger, Eric G., Matthijs, Gert, Hennet, Thierry, Aebi, Markus
Published in The Journal of clinical investigation (01.12.2001)
Published in The Journal of clinical investigation (01.12.2001)
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Journal Article
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS
Aebi, M, Helenius, A, Schenk, B, Barone, R, Fiumara, A, Berger, E G, Hennet, T, Imbach, T, Stutz, A, Bjursell, C, Uller, A, Wahlström, J G, Briones, P, Cardo, E, Clayton, P, Winchester, B, Cormier-Dalre, V, de Lonlay, P, Cuer, M, Dupré, T, Seta, N, de Koning, T, Dorland, L, de Loos, F, Kupers, L
Published in Glycoconjugate journal (01.11.1999)
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Published in Glycoconjugate journal (01.11.1999)
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DE3113606
REZMANN, ERICH, , 3500 IMBACH, AT, HARRER, KARL, , 3500 KREMS, AT, MITGUTSCH, ALFRED., 1070 WIEN, AT, HOBIGER, HERMANN, , 3494 THEISS, AT
Year of Publication 28.04.1983
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Year of Publication 28.04.1983
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