Tumoral calcinosis

Por Janssen, Mirian C. H., de Sévaux, Ruud G. L.
Publicado em 2010

Non-invasive measurements of atherosclerosis in adult cystinosis patients

Por Besouw, Martine T. P., Holewijn, Suzanne, Levtchenko, Elena N., Janssen, Mirian C. H.
Publicado em 2011

Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation study

Por Ramakers, Rob, Koene, Saskia, Groothuis, Jan T., de Laat, Paul, Janssen, Mirian C. H., Smeitink, Jan
Publicado no Orphanet J Rare Dis (2017)

Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency

Por van de Logt, Anne-Els, Kluijtmans, Leo A. J., Huigen, Marleen C. D. G., Janssen, Mirian C. H.
Publicado no JIMD Rep (2016)

Three families with ‘de novo’ m.3243A > G mutation

Por de Laat, Paul, Janssen, Mirian C.H., Alston, Charlotte L., Taylor, Robert W., Rodenburg, Richard J.T., Smeitink, Jan A.M.
Publicado no BBA Clin (2016)

Inheritance of the m.3243A>G mutation

Por de Laat, Paul, Koene, Saskia, Heuvel, Lambert P. W. J. vd, Rodenburg, Richard J. T., Janssen, Mirian C. H., Smeitink, Jan A. M.
Publicado em 2012

Erratum to: Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A>G mutation

Por de Laat, Paul, Koene, Saskia, vd Heuvel, Lambert P. W. J., Rodenburg, Richard J. T., Janssen, Mirian C. H., Smeitink, Jan A. M.
Publicado no J Inherit Metab Dis (2012)

Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation

Por de Laat, Paul, Koene, Saskia, van den Heuvel, Lambert P. W. J., Rodenburg, Richard J. T., Janssen, Mirian C. H., Smeitink, Jan A. M.
Publicado em 2012

Symptomatic lipid storage in carriers for the PNPLA2 gene

Por Janssen, Mirian C H, van Engelen, Baziel, Kapusta, Livia, Lammens, Martin, van Dijk, Martin, Fischer, Judith, van der Graaf, Marinette, Wevers, Ron A, Fahrleitner, Manuela, Zimmermann, Robert, Morava, Eva
Publicado em 2013

Symptomatic lipid storage in carriers for the PNPLA2 gene

Por Janssen, Mirian C H, van Engelen, Baziel, Kapusta, Livia, Lammens, Martin, van Dijk, Martin, Fischer, Judith, van der Graaf, Marinette, Wevers, Ron A, Fahrleitner, Manuela, Zimmermann, Robert, Morava, Eva
Publicado em 2013

Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Disease Progression in Adult m.3243A>G Carriers

Por Koene, Saskia, de Laat, Paul, van Tienoven, Doorlène H., Weijers, Gert, Vriens, Dennis, Sweep, Fred C. G. J., Timmermans, Janneke, Kapusta, Livia, Janssen, Mirian C. H., Smeitink, Jan A. M.
Publicado no JIMD Rep (2015)

High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial

Por 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.
Publicado em 2010

Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study

Por Jahja, Rianne, van Spronsen, Francjan J., de Sonneville, Leo M. J., van der Meere, Jaap J., 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., Huijbregts, Stephan C. J.
Publicado no J Inherit Metab Dis (2016)

Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study

Por Jahja, Rianne, van Spronsen, Francjan J., de Sonneville, Leo M. J., van der Meere, Jaap J., 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., Huijbregts, Stephan C. J.
Publicado no Behav Genet (2017)

Second international round robin for the quantification of serum non-transferrin-bound iron and labile plasma iron in patients with iron-overload disorders

Por 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.
Publicado no Haematologica (2016)

International Paediatric Mitochondrial Disease Scale

Por 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.
Publicado no J Inherit Metab Dis (2016)

Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients

Por 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.
Publicado no J Inherit Metab Dis (2018)