Diurnal rhythm rather than dietary iron mediates daily hepcidin variations von Schaap, Charlotte C M, Hendriks, Jan C M, Kortman, Guus A M, Klaver, Siem M, Kroot, Joyce J C, Laarakkers, Coby M M, Wiegerinck, Erwin T, Tjalsma, Harold, Janssen, Mirian C H, Swinkels, Dorine W

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Hereditary Hemochromatosis: Genetic Complexity and New Diagnostic Approaches von Swinkels, Dorine W, Janssen, Mirian C.H, Bergmans, Jurgen, Marx, Joannes J.M

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Quantification of gait in mitochondrial m.3243A > G patients: a validation study von Ramakers, Rob, Koene, Saskia, Groothuis, Jan T, de Laat, Paul, Janssen, Mirian Ch, Smeitink, Jan

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Individual dietary intervention in adult patients with mitochondrial disease due to the m.3243 A>G mutation von Zweers, Heidi, Smit, Debbie, Leij, Susanne, Wanten, Geert, Janssen, Mirian C.H.

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Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation von de Laat, Paul, Koene, Saskia, van den Heuvel, Lambert P. W. J., Rodenburg, Richard J. T., Janssen, Mirian C. H., Smeitink, Jan A. M.

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Successful liver transplantation and long-term follow-up in a patient with MPI-CDG von Janssen, Mirian C H, de Kleine, Ruben H, van den Berg, Arie P, Heijdra, Yvonne, van Scherpenzeel, Monique, Lefeber, Dirk J, Morava, Eva

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Vaccine safety in children with genetically confirmed mitochondrial disease von de Vreugd, Annemarie, Zimmermann, Franz A, Steinbrücker, Katja, de Vries, Maaike C, de Boer, Lonneke, Janssen, Mirian Ch, Huemer, Martina, Wortmann, Saskia B

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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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Human and animal fertility studies in cystinosis reveal signs of obstructive azoospermia, an altered blood‐testis barrier and a subtherapeutic effect of cysteamine in testis von Reda, Ahmed, Veys, Koenraad, Kadam, Prashant, Taranta, Anna, Rega, Laura Rita, Goffredo, Bianca M., Camps, Chelsea, Besouw, Martine, Cyr, Daniel, Albersen, Maarten, Spiessens, Carl, Wever, Liesbeth, Hamer, Robert, Janssen, Mirian C.H., D'Hauwers, Kathleen, Wetzels, Alex, Monnens, Leo, Heuvel, Lambertus, Goossens, Ellen, Levtchenko, Elena

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Vaccine safety in children with genetically confirmed mitochondrial disease von de Vreugd, Annemarie, Zimmermann, Franz A., Steinbrücker, Katja, de Vries, Maaike C., de Boer, Lonneke, Janssen, Mirian CH, Huemer, Martina, Wortmann, Saskia B.

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Serum FGF21 levels in adult m.3243A>G carriers: Clinical implications von Koene, Saskia, de Laat, Paul, van Tienoven, Doorlène H, Vriens, Dennis, Brandt, André M, Sweep, Fred C.G.J, Rodenburg, Richard J.T, Donders, A. Rogier T, Janssen, Mirian C.H, Smeitink, Jan A.M

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Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy von Coughlin, Curtis R, Tseng, Laura A, Bok, Levinus A, Hartmann, Hans, Footitt, Emma, Striano, Pasquale, Tabarki, Brahim M, Lunsing, Roelineke J, Stockler-Ipsiroglu, Sylvia, Gordon, Shanlea, Van Hove, Johan L.K, Abdenur, Jose E., Boyer, Monica, Longo, Nicola, Andrews, Ashley, Janssen, Mirian CH, van Wegberg, Annemiek, Prasad, Chitra, Prasad, Asuri N., Lamb, Molly M, Wijburg, Frits A., Gospe, Sidney M., van Karnebeek, Clara

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Erythrocytapheresis versus phlebotomy in the maintenance treatment of HFE hemochromatosis patients: results from a randomized crossover trial von Rombout-Sestrienkova, Eva, Winkens, Bjorn, Essers, Brigitte A.B., Nieman, Fred H.M., Noord, Paulus A.H., Janssen, Mirian C.H., van Deursen, Cees Th.B.M., Boonen, Annelies, Reuser-Kaasenbrood, Ellen P.J.M., Heeremans, Judith, van Kraaij, Marian, Masclee, Ad, Koek, Ger H.

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Indications for Tube Feeding in Adults with Muscular Disorders: A scoping review von Middelink, Marloes, Voermans, Nicol C, van Engelen, Baziel G M, Janssen, Mirian C H, Groothuis, Jan T, Knuijt, Simone, Zweers-van Essen, Heidi

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Iron refractory iron deficiency anemia: a heterogeneous disease that is not always iron refractory von Donker, Albertine E., Schaap, Charlotte C.M., Novotny, Vera M. J., Smeets, Roel, Peters, Tessa M. A., van den Heuvel, Bert L. P., Raphael, Martine F., Rijneveld, Anita W., Appel, Inge M., Vlot, Andre J., Versluijs, A. Birgitta, van Gelder, Michel, Granzen, Bernd, Janssen, Mirian C.H., Rennings, Alexander J.M., van de Veerdonk, Frank L., Brons, Paul P.T., Bakkeren, Dirk L., Nijziel, Marten R., Vlasveld, L. Thom, Swinkels, Dorine W.

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Bone Quality in Patients with a Congenital Myopathy: A Scoping Review von Bouman, Karlijn, Dittrich, Anne T M, Groothuis, Jan T, van Engelen, Baziel G M, Janssen, Mirian C H, Voermans, Nicol C, Draaisma, Jos M T, Erasmus, Corrie E

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International Paediatric Mitochondrial Disease Scale von Koene, Saskia, Hendriks, Jan C. M., Dirks, Ilse, de Boer, Lonneke, de Vries, Maaike C., Janssen, Mirian C. H., Smuts, Izelle, Fung, Cheuk-Wing, Wong, Virginia C. N., de Coo, I. René F. M., Vill, Katharina, Stendel, Claudia, Klopstock, Thomas, Falk, Marni J., McCormick, Elizabeth M., McFarland, Robert, de Groot, Imelda J. M., Smeitink, Jan A. M.

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SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness von Bouman, Karlijn, Groothuis, Jan T., Doorduin, Jonne, van Alfen, Nens, Udink ten Cate, Floris E.A., van den Heuvel, Frederik M.A., Nijveldt, Robin, Kamsteeg, Erik-Jan, Dittrich, Anne T.M., Draaisma, Jos M.T., Janssen, Mirian C.H., van Engelen, Baziel G.M., Erasmus, Corrie E., Voermans, Nicol C.

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Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype von Anjema, Karen, van Rijn, Margreet, Hofstede, Floris C, Bosch, Annet M, Hollak, Carla E M, Rubio-Gozalbo, Estela, de Vries, Maaike C, Janssen, Mirian C H, Boelen, Carolien C A, Burgerhof, Johannes G M, Blau, Nenad, Heiner-Fokkema, M Rebecca, van Spronsen, Francjan J

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Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients von Mendes, Marisa I. S., Colaço, Henrique G., Smith, Desirée E. C., Ramos, Rúben J. J. F., Pop, Ana, van Dooren, Silvy J. M., Tavares de Almeida, Isabel, Kluijtmans, Leo A. J., Janssen, Mirian C. H., Rivera, Isabel, Salomons, Gajja S., Leandro, Paula, Blom, Henk J.

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