Search Results - Pitt, James

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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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    Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations by Pitt, James J. (Author) , Peters, Heidi (Author) , Boneh, Avihu (Author) , Yaplito‐Lee, Joy (Author) , Wieser, Stefanie (Author) , Hinderhofer, Katrin (Author) , Johnson, David (Author) , Zschocke, Johannes (Author) ,


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