Search Results - Witters, Peter

  • Showing 1 - 6 results of 6
Refine Results
  1. 1
    Cover Image

    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) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  2. 2
    Cover Image

    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) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  3. 3
    Cover Image

    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) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  4. 4
    Cover Image

    Gastrostomy tube insertion in pediatric patients with autosomal recessive polycystic kidney disease (ARPKD): current practice by Burgmaier, Kathrin (Author) , Brandt, Joy (Author) , Shroff, Rukshana (Author) , Witters, Peter (Author) , Weber, Lutz T. (Author) , Dötsch, Jörg (Author) , Schaefer, Franz (Author) , Mekahli, Djalila (Author) , Liebau, Max C. (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  5. 5
    Cover Image

    Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies by Morava-Kozicz, Eva (Author) , Tiemes, Vera (Author) , Thiel, Christian (Author) , Seta, Nathalie (Author) , Lonlay, Pascale de (Author) , Klerk, Hans de (Author) , Mulder, Margot (Author) , Rubio‐Gozalbo, Estela (Author) , Visser, Gepke (Author) , Hasselt, Peter van (Author) , Horovitz, Dafne D. G. (Author) , Souza, Carolina Fischinger Moura de (Author) , Schwartz, Ida V. D. (Author) , Green, Andrew (Author) , Al‐Owain, Mohammed (Author) , Uziel, Graciella (Author) , Sigaudy, Sabine (Author) , Chabrol, Brigitte (Author) , Spronsen, Franc-Jan van (Author) , Steinert, Martin (Author) , Komini, Eleni (Author) , Wurm, Donald (Author) , Bevot, Andrea (Author) , Ayadi, Addelkarim (Author) , Huijben, Karin (Author) , Dercksen, Marli (Author) , Witters, Peter (Author) , Jaeken, Jaak (Author) , Matthijs, Gert (Author) , Lefeber, Dirk J. (Author) , Wevers, Ron A. (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  6. 6
    Cover Image

    ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies by Morava-Kozicz, Eva (Author) , Tiemes, Vera (Author) , Thiel, Christian (Author) , Seta, Nathalie (Author) , Lonlay, Pascale de (Author) , Klerk, Hans de (Author) , Mulder, Margot (Author) , Rubio‐Gozalbo, Estela (Author) , Visser, Gepke (Author) , Hasselt, Peter van (Author) , Horovitz, Dafne D. G. (Author) , Souza, Carolina Fischinger Moura de (Author) , Schwartz, Ida V. D. (Author) , Green, Andrew (Author) , Al‐Owain, Mohammed (Author) , Uziel, Graciella (Author) , Sigaudy, Sabine (Author) , Chabrol, Brigitte (Author) , Spronsen, Franc-Jan van (Author) , Steinert, Martin (Author) , Komini, Eleni (Author) , Wurm, Donald (Author) , Bevot, Andrea (Author) , Ayadi, Addelkarim (Author) , Huijben, Karin (Author) , Dercksen, Marli (Author) , Witters, Peter (Author) , Jaeken, Jaak (Author) , Matthijs, Gert (Author) , Lefeber, Dirk J. (Author) , Wevers, Ron A. (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:

Search Tools: