Search Results - Lee, Joy

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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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    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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