Search Results - Rymen, Daisy

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  1. 1
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    Hepatic form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): phenotypic spectrum, laboratory findings, and therapeutic approaches in 52 patients by Hammann, Nicole Irene (Author) , Staufner, Christian (Author) , Schlieben, Lea Dewi (Author) , Dezsőfi-Gottl, Antal (Author) , Feichtinger, René G. (Author) , Häberle, Johannes (Author) , Junge, Norman (Author) , Konstantopoulou, Vassiliki (Author) , Kopajtich, Robert (Author) , McLin, Valérie (Author) , Rymen, Daisy (Author) , Slavetinsky, Christoph (Author) , Sturm, Ekkehard (Author) , Mayr, Johannes A. (Author) , Wagner, Matias (Author) , Kölker, Stefan (Author) , Prokisch, Holger (Author) , Hoffmann, Georg F. (Author) , Lenz, Dominic (Author) ,


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  2. 2
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    Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation by Jáñez Pedrayes, Andrea (Author) , De Craemer, Sam (Author) , Idkowiak, Jakub (Author) , Verdegem, Dries (Author) , Thiel, Christian (Author) , Barone, Rita (Author) , Serrano, Mercedes (Author) , Honzík, Tomáš (Author) , Morava, Eva (Author) , Vermeersch, Pieter (Author) , Foulquier, François (Author) , Morelle, Willy (Author) , Swinnen, Johannes V. (Author) , Rymen, Daisy (Author) , Cassiman, David (Author) , Ghesquière, Bart (Author) , Witters, Peter (Author) ,


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  3. 3
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    Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings by Wilson, Matthew P. (Author) , Garanto, Alejandro (Author) , Pinto e Vairo, Filippo (Author) , Ng, Bobby G. (Author) , Ranatunga, Wasantha K. (Author) , Ventouratou, Marina (Author) , Baerenfaenger, Melissa (Author) , Huijben, Karin (Author) , Thiel, Christian (Author) , Ashikov, Angel (Author) , Keldermans, Liesbeth (Author) , Souche, Erika (Author) , Vuillaumier-Barrot, Sandrine (Author) , Dupré, Thierry (Author) , Michelakakis, Helen (Author) , Fiumara, Agata (Author) , Pitt, James (Author) , White, Susan M. (Author) , Lim, Sze Chern (Author) , Gallacher, Lyndon (Author) , Peters, Heidi (Author) , Rymen, Daisy (Author) , Witters, Peter (Author) , Ribes, Antonia (Author) , Morales-Romero, Blai (Author) , Rodríguez-Palmero, Agustí (Author) , Ballhausen, Diana (Author) , de Lonlay, Pascale (Author) , Barone, Rita (Author) , Janssen, Mirian C. H. (Author) , Jaeken, Jaak (Author) , Freeze, Hudson H. (Author) , Matthijs, Gert (Author) , Morava, Eva (Author) , Lefeber, Dirk J. (Author) ,


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  4. 4
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    International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): diagnosis, follow-up, and management by Altassan, Ruqaiah (Author) , Radenkovic, Silvia (Author) , Edmondson, Andrew C. (Author) , Barone, Rita (Author) , Brasil, Sandra (Author) , Cechova, Anna (Author) , Coman, David (Author) , Donoghue, Sarah (Author) , Falkenstein, Kristina (Author) , Ferreira, Vanessa (Author) , Ferreira, Carlos (Author) , Fiumara, Agata (Author) , Francisco, Rita (Author) , Freeze, Hudson (Author) , Grunewald, Stephanie (Author) , Honzik, Tomas (Author) , Jaeken, Jaak (Author) , Krasnewich, Donna (Author) , Lam, Christina (Author) , Lee, Joy (Author) , Lefeber, Dirk (Author) , Marques-da-Silva, Dorinda (Author) , Pascoal, Carlota (Author) , Quelhas, Dulce (Author) , Raymond, Kimiyo M. (Author) , Rymen, Daisy (Author) , Seroczynska, Malgorzata (Author) , Serrano, Mercedes (Author) , Sykut-Cegielska, Jolanta (Author) , Thiel, Christian (Author) , Tort, Frederic (Author) , Vals, Mari-Anne (Author) , Videira, Paula (Author) , Voermans, Nicol (Author) , Witters, Peter (Author) , Morava, Eva (Author) ,


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  5. 5
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    RINT1 bi-allelic variations cause infantile-onset recurrent acute liver failure and skeletal abnormalities by Cousin, Margot (Author) , Conboy, Erin (Author) , Wang, Jian-She (Author) , Lenz, Dominic (Author) , Schwab, Tanya L. (Author) , Williams, Monique (Author) , Abraham, Roshini S. (Author) , Barnett, Sarah (Author) , El-Youssef, Mounif (Author) , Graham, Rondell P. (Author) , Gutierrez Sanchez, Luz Helena (Author) , Hasadsri, Linda (Author) , Hoffmann, Georg F. (Author) , Hull, Nathan C. (Author) , Kopajtich, Robert (Author) , Kovacs-Nagy, Reka (Author) , Li, Jia-qi (Author) , Marx-Berger, Daniela (Author) , McLin, Valérie (Author) , McNiven, Mark A. (Author) , Mounajjed, Taofic (Author) , Prokisch, Holger (Author) , Rymen, Daisy (Author) , Schulze, Ryan J. (Author) , Staufner, Christian (Author) , Yang, Ye (Author) , Clark, Karl J. (Author) , Lanpher, Brendan C. (Author) , Klee, Eric W. (Author) ,


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