Tumoral calcinosis

بواسطة Janssen, Mirian C. H., de Sévaux, Ruud G. L.
منشور في 2010

Non-invasive measurements of atherosclerosis in adult cystinosis patients

بواسطة Besouw, Martine T. P., Holewijn, Suzanne, Levtchenko, Elena N., Janssen, Mirian C. H.
منشور في 2011

Optimal Estimate for Energy Requirements in Adult Patients With the m.3243A>G Mutation in Mitochondrial DNA

بواسطة Zweers, Heidi E. E., Janssen, Mirian C. H., Wanten, Geert J. A.
الحاوية / القاعدة JPEN J Parenter Enteral Nutr (2020)

Response to Energy Requirements in m.3243A>G Carriers Depend on Multiple Factors

بواسطة Zweers, Heidi E. E., Janssen, Mirian C. H., Wanten, Geert J. A.
الحاوية / القاعدة JPEN J Parenter Enteral Nutr (2020)

Intra‐patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation

بواسطة de Laat, Paul, Rodenburg, Richard J., Smeitink, Jan A. M., Janssen, Mirian C. H.
الحاوية / القاعدة Mol Genet Genomic Med (2018)

Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety

بواسطة Zweers, Heidi, van Wegberg, Annemiek M. J., Janssen, Mirian C. H., Wortmann, Saskia B.
الحاوية / القاعدة Orphanet J Rare Dis (2021)

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

بواسطة Ramakers, Rob, Koene, Saskia, Groothuis, Jan T., de Laat, Paul, Janssen, Mirian C. H., Smeitink, Jan
الحاوية / القاعدة Orphanet J Rare Dis (2017)

Fear of disease progression in carriers of the m.3243A > G mutation

بواسطة Custers, José A. E., de Laat, Paul, Koene, Saskia, Smeitink, Jan, Janssen, Mirian C. H., Verhaak, Christianne
الحاوية / القاعدة Orphanet J Rare Dis (2018)

Five non-mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes phenotype adult patients with m.3243A>G mutation after kidney transplantation: follow-up a...

بواسطة de Laat, Paul, van Engelen, Nienke, Wetzels, Jack F, Smeitink, Jan A M, Janssen, Mirian C H
الحاوية / القاعدة Clin Kidney J (2019)

Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency

بواسطة van de Logt, Anne-Els, Kluijtmans, Leo A. J., Huigen, Marleen C. D. G., Janssen, Mirian C. H.
الحاوية / القاعدة JIMD Rep (2016)

Association of Body Composition, Physical Functioning, and Protein Intake in Adult Patients With Mitochondrial Diseases

بواسطة Zweers, Heidi E. E., Bordier, Valentine, in ‘t Hulst, Jeanne, Janssen, Mirian C. H., Wanten, Geert J. A., Leij‐Halfwerk, Susanne
الحاوية / القاعدة JPEN J Parenter Enteral Nutr (2020)

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

بواسطة de Laat, Paul, Janssen, Mirian C.H., Alston, Charlotte L., Taylor, Robert W., Rodenburg, Richard J.T., Smeitink, Jan A.M.
الحاوية / القاعدة BBA Clin (2016)

Inheritance of the m.3243A>G mutation

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

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

بواسطة de Laat, Paul, Koene, Saskia, vd Heuvel, Lambert P. W. J., Rodenburg, Richard J. T., Janssen, Mirian C. H., Smeitink, Jan A. M.
الحاوية / القاعدة J Inherit Metab Dis (2012)

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

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

The KHENERGY Study: Safety and Efficacy of KH176 in Mitochondrial m.3243A>G Spectrum Disorders

بواسطة Janssen, Mirian C.H., Koene, Saskia, de Laat, Paul, Hemelaar, Pleun, Pickkers, Peter, Spaans, Edwin, Beukema, Rypko, Beyrath, Julien, Groothuis, Jan, Verhaak, Chris, Smeitink, Jan
الحاوية / القاعدة Clin Pharmacol Ther (2018)

Psychological functioning in children suspected for mitochondrial disease: the need for care

بواسطة van de Loo, Kim F. E., Custers, José A. E., Koene, Saskia, Klein, Inge-Lot, Janssen, Mirian C. H., Smeitink, Jan A. M., Verhaak, Christianne M.
الحاوية / القاعدة Orphanet J Rare Dis (2020)

Symptomatic lipid storage in carriers for the PNPLA2 gene

بواسطة 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
منشور في 2013

Symptomatic lipid storage in carriers for the PNPLA2 gene

بواسطة 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
منشور في 2013

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

بواسطة 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.
الحاوية / القاعدة JIMD Rep (2015)