Neurodevelopmental defects in a mouse model of O-GlcNAc transferase intellectual disability by Authier, Florence, Ondruskova, Nina, Ferenbach, Andrew T, McNeilly, Alison D, van Aalten, Daan M F

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ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings by Farolfi, Martina, Cechova, Anna, Ondruskova, Nina, Zidkova, Jana, Kousal, Bohdan, Hansikova, Hana, Honzik, Tomas, Liskova, Petra

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Congenital disorders of glycosylation: Still “hot” in 2020 by Ondruskova, Nina, Cechova, Anna, Hansikova, Hana, Honzik, Tomas, Jaeken, Jaak

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Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency by Honzík, Tomáš, Magner, Martin, Krijt, Jakub, Sokolová, Jitka, Vugrek, Oliver, Belužić, Robert, Barić, Ivo, Hansíkova, Hana, Elleder, Milan, Veselá, Kateřina, Bauerová, Lenka, Ondrušková, Nina, Ješina, Pavel, Zeman, Jiří, Kožich, Viktor

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Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation by Park, Eon Joo, Grabińska, Kariona A., Guan, Ziqiang, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Barešová, Veronika, Sovová, Jana, Jozsef, Levente, Ondrušková, Nina, Hansíková, Hana, Honzík, Tomáš, Zeman, Jiří, Hůlková, Helena, Wen, Rong, Kmoch, Stanislav, Sessa, William C.

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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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Severe phenotype of ATP6AP1‐CDG in two siblings with a novel mutation leading to a differential tissue‐specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic coppe... by Ondruskova, Nina, Honzik, Tomas, Vondrackova, Alzbeta, Stranecky, Viktor, Tesarova, Marketa, Zeman, Jiri, Hansikova, Hana

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Aberrant apolipoprotein C-III glycosylation in glycogen storage disease type III and IX by Ondruskova, Nina, Honzik, Tomas, Kolarova, Hana, Pakanova, Zuzana, Mucha, Jan, Zeman, Jiri, Hansikova, Hana

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Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation by Dang Do, An N., Chang, Irene J., Jiang, Xutian, Wolfe, Lynne A., Ng, Bobby G., Lam, Christina, Schnur, Rhonda E., Allis, Katrina, Hansikova, Hana, Ondruskova, Nina, O'Connor, Shawn D., Sanchez‐Valle, Amarilis, Vollo, Arve, Wang, Raymond Y., Wolfenson, Zoe, Perreault, John, Ory, Daniel S., Freeze, Hudson H., Merritt, J. Lawrence, Porter, Forbes D.

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Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency by VAN SCHERPENZEEL, Monique, TIMAL, Sharita, GRØNBORG, Sabine, RUIJTER, George, KATTENTIDT-MOURAVIEVA, Anna, MORITZ BRUM, Jaime, FRECKMANN, Mary-Louise, TOMKINS, Susan, JALAN, Anil, PROCHAZKOVA, Dagmar, ONDRUSKOVA, Nina, HANSIKOVA, Hana, RYMEN, Daisy, WILLEMSEN, Michel A, HENSBERGEN, Paul J, MATTHIJS, Gert, WEVERS, Ron A, VELTMAN, Joris A, MORAVA, Eva, LEFEBER, Dirk J, HOISCHEN, Alexander, WUHRER, Manfred, HIPGRAVE-EDERVEEN, Agnes, GRUNEWALD, Stephanie, PEANNE, Romain, SAADA, Ann, EDVARDSON, Shimon

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RFT1-CDG in adult siblings with novel mutations by Ondruskova, Nina, Vesela, Katerina, Hansikova, Hana, Magner, Martin, Zeman, Jiri, Honzik, Tomas

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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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Mutation of NgBR, a subunit of cis-prenyltransferase, causes a congenial disorder of glycosylation by Park, Eon Joo, Grabińska, Kariona A., Guan, Ziqiang, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Barešová, Veronika, Sovová, Jana, Jozsef, Levente, Ondrušková, Nina, Hansíková, Hana, Honzík, Tomáš, Zeman, Jiří, Hůlková, Helena, Wen, Rong, Kmoch, Stanislav, Sessa, William C.

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