Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety von Zweers, Heidi, van Wegberg, Annemiek M J, Janssen, Mirian C H, Wortmann, Saskia B

Volltext

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.

Volltext

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.

Volltext

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

Volltext

The KHENERGY Study: Safety and Efficacy of KH176 in Mitochondrial m.3243A>G Spectrum Disorders von Janssen, Mirian C.H., Koene, Saskia, Laat, Paul, Hemelaar, Pleun, Pickkers, Peter, Spaans, Edwin, Beukema, Rypko, Beyrath, Julien, Groothuis, Jan, Verhaak, Chris, Smeitink, Jan

Volltext

Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients von Coene, Karlien L. M., Kluijtmans, Leo A. J., van der Heeft, Ed, Engelke, Udo F. H., de Boer, Siebolt, Hoegen, Brechtje, Kwast, Hanneke J. T., van de Vorst, Maartje, Huigen, Marleen C. D. G., Keularts, Irene M. L. W., Schreuder, Michiel F., van Karnebeek, Clara D. M., Wortmann, Saskia B., de Vries, Maaike C., Janssen, Mirian C. H., Gilissen, Christian, Engel, Jasper, Wevers, Ron A.

Volltext

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

Volltext

High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial von ten Hoedt, Amber E, de Sonneville, Leo M. J, Francois, Baudouin, ter Horst, Nienke M, Janssen, Mirian C. H, Rubio-Gozalbo, M. Estela, Wijburg, Frits A, Hollak, Carla E. M, Bosch, Annet M

Volltext

Cognitive functioning and mental health in children with a primary mitochondrial disease von van de Loo, Kim F. E, Custers, José A. E, de Boer, Lonneke, van Lieshout, Marloes, de Vries, Maaike C, Janssen, Mirian C. H, Verhaak, Christianne M

Volltext

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

Volltext

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

Volltext

Cognitive Profile and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study von Jahja, Rianne, Huijbregts, Stephan C. J., de Sonneville, Leo M. J., van der Meere, Jaap J., Legemaat, Amanda M., Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, Floris C., de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., van Spronsen, Francjan J.

Volltext

A conceptual disease model for quality of life in mitochondrial disease von van de Loo, Kim F E, van Zeijl, Nander T, Custers, José A E, Janssen, Mirian C H, Verhaak, Christianne M

Volltext

A retrospective cohort study exploring the association between different mitochondrial diseases and hearing loss von van Kempen, Carlijn M.A., Beynon, Andy J., Smits, Jeroen J., Janssen, Mirian C.H.

Volltext

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities von Welsink-Karssies, Mendy M, Oostrom, Kim J, Hermans, Merel E, Hollak, Carla E M, Janssen, Mirian C H, Langendonk, Janneke G, Oussoren, Esmee, Rubio Gozalbo, M Estela, de Vries, Maaike, Geurtsen, Gert J, Bosch, Annet M

Volltext

Patients With Mitochondrial Disease Have an Inadequate Nutritional Intake von Zweers, Heidi, Janssen, Mirian C. H., Leij, Susanne, Wanten, Geert

Volltext

Second international round robin for the quantification of serum non-transferrin-bound iron and labile plasma iron in patients with iron-overload disorders von de Swart, Louise, Hendriks, Jan C M, van der Vorm, Lisa N, Cabantchik, Z Ioav, Evans, Patricia J, Hod, Eldad A, Brittenham, Gary M, Furman, Yael, Wojczyk, Boguslaw, Janssen, Mirian C H, Porter, John B, Mattijssen, Vera E J M, Biemond, Bart J, MacKenzie, Marius A, Origa, Raffaella, Galanello, Renzo, Hider, Robert C, Swinkels, Dorine W

Volltext

Retinal vein occlusion: A form of venous thrombosis or a complication of atherosclerosis? A meta-analysis of thrombophilic factors von JANSSEN, Mirian C. H, DEN HEIJER, Martin, CRUYSBERG, Johannes R. M, WOLLERSHEIM, Hub, BREDIE, Sebastian J. H

Volltext

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

Volltext

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

Volltext