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Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency. [electronic resource] 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
Producer: 20130327
In:
Molecular genetics and metabolism vol. 107
Availability: No items available.
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7.
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Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I. [electronic resource] 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
Producer: 20111202
In:
Journal of inherited metabolic disease vol. 34
Availability: No items available.
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8.
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Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation. [electronic resource] 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
Producer: 20150518
In:
Cell metabolism vol. 20
Availability: No items available.
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Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. [electronic resource] by
- Van Scherpenzeel, Monique
- Timal, Sharita
- Rymen, Daisy
- Hoischen, Alexander
- Wuhrer, Manfred
- Hipgrave-Ederveen, Agnes
- Grunewald, Stephanie
- Peanne, Romain
- Saada, Ann
- Edvardson, Shimon
- Grønborg, Sabine
- Ruijter, George
- Kattentidt-Mouravieva, Anna
- Brum, Jaime Moritz
- Freckmann, Mary-Louise
- Tomkins, Susan
- Jalan, Anil
- Prochazkova, Dagmar
- Ondruskova, Nina
- Hansikova, Hana
- Willemsen, Michel A
- Hensbergen, Paul J
- Matthijs, Gert
- Wevers, Ron A
- Veltman, Joris A
- Morava, Eva
- Lefeber, Dirk J
Producer: 20140521
In:
Brain : a journal of neurology vol. 137
Availability: No items available.
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10.
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Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation. [electronic resource] by
- Ashikov, Angel
- Abu Bakar, Nurulamin
- Wen, Xiao-Yan
- Niemeijer, Marco
- Rodrigues Pinto Osorio, Glentino
- Brand-Arzamendi, Koroboshka
- Hasadsri, Linda
- Hansikova, Hana
- Raymond, Kimiyo
- Vicogne, Dorothée
- Ondruskova, Nina
- Simon, Marleen E H
- Pfundt, Rolph
- Timal, Sharita
- Beumers, Roel
- Biot, Christophe
- Smeets, Roel
- Kersten, Marjan
- Huijben, Karin
- Linders, Peter T A
- van den Bogaart, Geert
- van Hijum, Sacha A F T
- Rodenburg, Richard
- van den Heuvel, Lambertus P
- van Spronsen, Francjan
- Honzik, Tomas
- Foulquier, Francois
- van Scherpenzeel, Monique
- Lefeber, Dirk J
- Mirjam, Wamelink
- Han, Brunner
- Helen, Mundy
- Helen, Michelakakis
- Peter, van Hasselt
- Jiddeke, van de Kamp
- Diego, Martinelli
- Lars, Morkrid
- Katja, Brocke Holmefjord
- Jozef, Hertecant
- Majid, Alfadhel
- Kevin, Carpenter
- Johann, Te Water Naude
Producer: 20190308
In:
Human molecular genetics vol. 27
Availability: No items available.
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