Stepwise assembly of the lipid-linked oligosaccharide in the endoplasmic reticulum of Saccharomyces cerevisiae: identification of the ALG9 gene encoding a putative mannosyl transfe...

por Burda, P, te Heesen, S, Brachat, A, Wach, A, Düsterhöft, A, Aebi, M
Publicado 1996

STT3, a highly conserved protein required for yeast oligosaccharyl transferase activity in vivo.

por Zufferey, R, Knauer, R, Burda, P, Stagljar, I, te Heesen, S, Lehle, L, Aebi, M
Publicado 1995

A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.

por Burda, P, Borsig, L, de Rijk-van Andel, J, Wevers, R, Jaeken, J, Carchon, H, Berger, E G, Aebi, M
Publicado 1998

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

por Tegtmeyer, L.C., Rust, S., van Scherpenzeel, M., Ng, B.G., Losfeld, M.-E., Timal, S., Raymond, K., He, P., Ichikawa, M., Veltman, J., Huijben, K., Shin, Y.S., Sharma, V., Adamowicz, M., Lammens, M., Reunert, J., Witten, A., Schrapers, E., Matthijs, G., Jaeken, J., Rymen, D., Stojkovic, T., Laforêt, P., Petit, F., Aumaître, O., Czarnowska, E., Piraud, M., Podskarbi, T., Stanley, C.A., Matalon, R., Burda, P., Seyyedi, S., Debus, V., Socha, P., Sykut-Cegielska, J., van Spronsen, F., de Meirleir, L., Vajro, P., DeClue, T., Ficicioglu, C., Wada, Y., Wevers, R.A., Vanderschaeghe, D., Callewaert, N., Fingerhut, R., van Schaftingen, E., Freeze, H.H., Morava, E., Lefeber, D.J., Marquardt, T.
Publicado en N Engl J Med (2014)

Exome Sequencing and the Management of Neurometabolic Disorders

por Tarailo-Graovac, M., Shyr, C., Ross, C.J., Horvath, G.A., Salvarinova, R., Ye, X.C., Zhang, L.-H., Bhavsar, A.P., Lee, J.J.Y., Drögemöller, B.I., Abdelsayed, M., Alfadhel, M., Armstrong, L., Baumgartner, M.R., Burda, P., Connolly, M.B., Cameron, J., Demos, M., Dewan, T., Dionne, J., Evans, A.M., Friedman, J.M., Garber, I., Lewis, S., Ling, J., Mandal, R., Mattman, A., McKinnon, M., Michoulas, A., Metzger, D., Ogunbayo, O.A., Rakic, B., Rozmus, J., Ruben, P., Sayson, B., Santra, S., Schultz, K.R., Selby, K., Shekel, P., Sirrs, S., Skrypnyk, C., Superti-Furga, A., Turvey, S.E., Van Allen, M.I., Wishart, D., Wu, J., Wu, J., Zafeiriou, D., Kluijtmans, L., Wevers, R.A., Eydoux, P., Lehman, A.M., Vallance, H., Stockler-Ipsiroglu, S., Sinclair, G., Wasserman, W.W., van Karnebeek, C.D.
Publicado en N Engl J Med (2016)