Search Results - Freeze, Hudson

  • Showing 1 - 4 results of 4
Refine Results
  1. 1
    Cover Image

    Clinical and biochemical footprints of congenital disorders of glycosylation: proposed nosology by Ng, Bobby (Author) , Freeze, Hudson H. (Author) , Himmelreich, Nastassja (Author) , Blau, Nenad (Author) , Ferreira, Carlos R. (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

    Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic) by Miller, Bradley (Author) , Freeze, Hudson H. (Author) , Hoffmann, Georg F. (Author) , Sarafoglou, Kyriakie (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:

Search Tools: