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Published in BMC ophthalmology (05.06.2021)
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Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency
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Published in Molecular genetics and metabolism (01.11.2012)
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Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I
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Published in Journal of inherited metabolic disease (01.08.2011)
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Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation
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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Published in Cell metabolism (02.09.2014)
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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 copper accumulation
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Published in Journal of inherited metabolic disease (01.07.2020)
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C17 Increased mitochondrial number, cellular stress and glycogen accumulation in heart of minipig model transgenic for N-terminal part of human mutated huntingtin
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Published in Journal of neurology, neurosurgery and psychiatry (01.09.2016)
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Isoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances
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Published in Prague medical report (2015)
Published in Prague medical report (2015)
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Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation
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.
Published in Journal of inherited metabolic disease (01.03.2023)
Published in Journal of inherited metabolic disease (01.03.2023)
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Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency
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
Published in Brain (London, England : 1878) (01.04.2014)
Published in Brain (London, England : 1878) (01.04.2014)
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RFT1-CDG in adult siblings with novel mutations
Ondruskova, Nina, Vesela, Katerina, Hansikova, Hana, Magner, Martin, Zeman, Jiri, Honzik, Tomas
Published in Molecular genetics and metabolism (01.12.2012)
Published in Molecular genetics and metabolism (01.12.2012)
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Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I : CDG: an uptdate
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
Published in Journal of inherited metabolic disease (2011)
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Published in Journal of inherited metabolic disease (2011)
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Mutation of NgBR, a subunit of cis-prenyltransferase, causes a congenial disorder of glycosylation
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.
Published in Cell metabolism (24.07.2014)
Published in Cell metabolism (24.07.2014)
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