Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase von Dimmock, D.P, Zhang, Q, Dionisi-Vici, C, Carrozzo, R, Shieh, J, Tang, L.Y, Truong, C, Schmitt, E, Sifry-Platt, M, Lucioli, S, Santorelli, F.M, Ficicioglu, C.H, Rodriguez, M, Wierenga, K, Enns, G.M, Longo, N, Lipson, M.H, Vallance, H, Craigen, W.J, Scaglia, F, Wong, L.J

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Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG von Pajusalu, Sander, Vals, Mari-Anne, Serrano, Mercedes, Witters, Peter, Cechova, Anna, Honzik, Tomas, Edmondson, Andrew C, Ficicioglu, Can, Barone, Rita, De Lonlay, Pascale, Berat, Claire-Marine, Vuillaumier-Barrot, Sandrine, Lam, Christina, Patterson, Marc C, Janssen, Mirian C.H, Martins, Esmeralda, Quelhas, Dulce, Sykut-Cegielska, Jolanta, Mousa, Jehan, Urreizti, Roser, Mcwilliams, Peter, Vernhes, Frederique, Plotkin, Horacio, Morava, Eva, Ounap, Katrin

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Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency? von Cechova, Anna, Honzik, Tomas, Edmondson, Andrew C, Ficicioglu, Can, Serrano, Mercedes, Barone, Rita, De Lonlay, Pascale, Schiff, Manuel, Witters, Peter, Lam, Christina, Patterson, Marc, Janssen, Mirian C.H, Correia, Joana, Quelhas, Dulce, Sykut-Cegielska, Jolanta, Plotkin, Horacio, Morava, Eva, Sarafoglou, Kyriakie

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Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency? von Čechová, Anna, Honzík, Tomáš, Edmondson, Andrew C., Ficicioglu, Can, Serrano, Mercedes, Barone, Rita, De Lonlay, Pascale, Schiff, Manuel, Witters, Peter, Lam, Christina, Patterson, Marc, Janssen, Mirian C.H., Correia, Joana, Quelhas, Dulce, Sykut-Cegielska, Jolanta, Plotkin, Horacio, Morava, Eva, Sarafoglou, Kyriakie

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Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis von Kožich, Viktor, Sokolová, Jitka, Morris, Andrew A. M., Pavlíková, Markéta, Gleich, Florian, Kölker, Stefan, Krijt, Jakub, Dionisi‐Vici, Carlo, Baumgartner, Matthias R., Blom, Henk J., Huemer, Martina, Aldámiz‐Echevarría, Luis, Arantes, Rodrigo Rezende, Arrieta, Francisco, Blasco‐Alonso, Javier, Brouwers, Martijn, Brunner‐Krainz, Michaela, Bueno, María, Peláez, Rosa Burgos, Cano, Aline, Couce, María‐Luz, Crushell, Ellen, Ficicioglu, Can, Forny, Patrick, García Jiménez, María Concepción, Gaspar, Ana, González‐Lamuño Leguina, Domingo, Chapman, Kimberly A., Chien, Yin‐Hsiu, Janssen, Mirian C.H., Ješina, Pavel, Lachmann, Robin, Lavigne, Christian, Lund, Allan M., Lüsebrink, Natalia, Maillot, Francois, Martins, Ana Maria, Olivas, Silvia Meavilla, Mention, Karine, Mochel, Fanny, Monavari, Ahmad, Moreira, Sónia, Moreno, Carolina Araujo, Muačević‐Katanec, Diana, Mundy, Helen, Murphy, Elaine, Olivieri, Giorgia, Paquay, Stéphanie, Pedrón‐Giner, Consuelo, Quintana, Luís Peña, Porras‐Hurtado, Gloria L., Fraile, Pilar Quijada, Redonnet‐Vernhet, Isabelle, Rennings, Alexander J.M., Pons, Mònica Ruiz, Santra, Saikat, Servais, Aude, Schiaffino, Maria Cristina, Schiff, Manuel, Schwahn, Bernd C., Schwartz, Ida V.D., Sremba, Leighann J., Stainforth, Collette, Stepien, Karolina M., Sykut‐Cegielska, Jolanta, Terry, Allyson, Tran, Christel, Miñana, Isidro Vitoria, Vives‐Piñera, Inmaculada, Williams, Monique, Zeman, Jiří, Zielonka, Matthias

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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry von Huemer, Martina, Diodato, Daria, Martinelli, Diego, Olivieri, Giorgia, Blom, Henk, Gleich, Florian, Kölker, Stefan, Kožich, Viktor, Morris, Andrew A, Seifert, Burkhardt, Froese, D Sean, Baumgartner, Matthias R, Dionisi-Vici, Carlo, Alcalde Martin, C, Baethmann, M, Ballhausen, D, Blasco-Alonso, J, Boy, N, Bueno, M, Burgos Peláez, R, Cerone, R, Chabrol, B, Chapman, K A, Couce, M L, Crushell, E, Dalmau Serra, J, Diogo, L, Ficicioglu, C, García Jimenez, M C, García Silva, M T, Gaspar, A M, Gautschi, M, González-Lamuño, D, Gouveia, S, Grünewald, S, Hendriksz, C, Janssen, M C H, Jesina, P, Koch, J, Konstantopoulou, V, Lavigne, C, Lund, A M, Martins, E G, Meavilla Olivas, S, Mention, K, Mochel, F, Mundy, H, Murphy, E, Paquay, S, Pedrón-Giner, C, Ruiz Gómez, M A, Santra, S, Schiff, M, Schwartz, I V, Scholl-Bürgi, S, Servais, A, Skouma, A, Tran, C, Vives Piñera, I, Walter, J, Weisfeld-Adams, J

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