Autosomal recessive cutis laxa syndrome revisited by Morava, Éva, Guillard, Maïlys, Lefeber, Dirk J, Wevers, Ron A

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Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I by Guillard, Mailys, Wada, Yoshinao, Hansikova, Hana, Yuasa, Isao, Vesela, Katerina, Ondruskova, Nina, Kadoya, Machiko, Janssen, Alice, Van den Heuvel, Lambertus P. W. J., Morava, Eva, Zeman, Jiri, Wevers, Ron A., Lefeber, Dirk J.

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Automated measurement of permethylated serum N-glycans by MALDI–linear ion trap mass spectrometry by Guillard, Maïlys, Gloerich, Jolein, Wessels, Hans J.C.T., Morava, Eva, Wevers, Ron A., Lefeber, Dirk J.

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B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement by Guillard, Maïlys, Morava, Eva, MD, PhD, de Ruijter, Jorg, Roscioli, Tony, MD, PhD, Penzien, Johann, MD, PhD, van den Heuvel, Lambert, PhD, Willemsen, Michel A., MD, PhD, de Brouwer, Arjan, PhD, Bodamer, Olaf A., MD, PhD, Wevers, Ron A., PhD, Lefeber, Dirk J., PhD

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Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II by Guillard, Maïlys, Morava, Eva, van Delft, Floris L, Hague, Rosie, Körner, Christian, Adamowicz, Maciej, Wevers, Ron A, Lefeber, Dirk J

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Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies by Lefeber, Dirk J., Schönberger, Johannes, Morava, Eva, Guillard, Mailys, Huyben, Karin M., Verrijp, Kiek, Grafakou, Olga, Evangeliou, Athanasios, Preijers, Frank W., Manta, Panagiota, Yildiz, Jef, Grünewald, Stephanie, Spilioti, Martha, van den Elzen, Christa, Klein, Dominique, Hess, Daniel, Ashida, Hisashi, Hofsteenge, Jan, Maeda, Yusuke, van den Heuvel, Lambert, Lammens, Martin, Lehle, Ludwig, Wevers, Ron A.

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Vacuolar H +-ATPase meets glycosylation in patients with cutis laxa by Guillard, Mailys, Dimopoulou, Aikaterini, Fischer, Björn, Morava, Eva, Lefeber, Dirk J., Kornak, Uwe, Wevers, Ron A.

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Pericardial and abdominal fluid accumulation in Congenital Disorder of Glycosylation type Ia by Truin, Gerben, Guillard, Mailys, Lefeber, Dirk J., Sykut-Cegielska, Jolanta, Adamowicz, Maciej, Hoppenreijs, Esther, Sengers, Rob C.A., Wevers, Ron A., Morava, Eva

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Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I : CDG: an uptdate by GUILLARD, Mailys, WADA, Yoshinao, ZEMAN, Jiri, WEVERS, Ron A, LEFEBER, Dirk J, HANSIKOVA, Hana, YUASA, Isao, VESELA, Katerina, ONDRUSKOVA, Nina, KADOYA, Machiko, JANSSEN, Alice, VAN DEN HEUVEL, Lambertus P. W. J, MORAVA, Eva

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Reply to Leao-Teles et al: Letter by Morava, Eva, Guillard, Maïlys, Lefeber, Dirk J, Wevers, Ron A

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Reply to Leao-Teles et al by Morava, Eva, Guillard, Maïlys, Lefeber, Dirk J, Wevers, Ron A

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