Tumoral calcinosis

por Janssen, Mirian C. H., de Sévaux, Ruud G. L.
Publicado 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 2011

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

por Zweers, Heidi E. E., Janssen, Mirian C. H., Wanten, Geert J. A.
Publicado 2020

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

por Zweers, Heidi E. E., Janssen, Mirian C. H., Wanten, Geert J. A.
Publicado 2020

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

por de Laat, Paul, Rodenburg, Richard J., Smeitink, Jan A. M., Janssen, Mirian C. H.
Publicado 2018

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

por Zweers, Heidi, van Wegberg, Annemiek M. J., Janssen, Mirian C. H., Wortmann, Saskia B.
Publicado 2021

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

por Zweers, Heidi, van Wegberg, Annemiek M. J., Janssen, Mirian C. H., Wortmann, Saskia B.
Publicado 2021

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 2017

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

por Custers, José A. E., de Laat, Paul, Koene, Saskia, Smeitink, Jan, Janssen, Mirian C. H., Verhaak, Christianne
Publicado 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...

por de Laat, Paul, van Engelen, Nienke, Wetzels, Jack F, Smeitink, Jan A M, Janssen, Mirian C H
Publicado 2019

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

por Zweers, Heidi E. E., Bordier, Valentine, in ‘t Hulst, Jeanne, Janssen, Mirian C. H., Wanten, Geert J. A., Leij‐Halfwerk, Susanne
Publicado 2020

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 2016

A conceptual disease model for quality of life in mitochondrial disease

por van de Loo, Kim F. E., van Zeijl, Nander T., Custers, José A. E., Janssen, Mirian C. H., Verhaak, Christianne M.
Publicado 2022

Identifying trajectories of fatigue in patients with primary mitochondrial disease due to the m.3243A > G variant

por Klein, Inge‐Lot, Verhaak, Christianne M., Smeitink, Jan A. M., de Laat, Paul, Janssen, Mirian C. H., Custers, José A. E.
Publicado 2022

Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review

por Middelink, Marloes, Voermans, Nicol C., van Engelen, Baziel G.M., Janssen, Mirian C.H., Groothuis, Jan T., Knuijt, Simone, Zweers-van Essen, Heidi
Publicado 2023

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 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 2012

Increased prevalence of Parkinson's disease in alkaptonuria

por Ranganath, Lakshminarayan, Khedr, Milad, Milan, Anna M., Davison, Andrew S., Norman, Brendan P., Janssen, Mirian C. H., Lock, Edward, Bou‐Gharios, George, Gallagher, James A.
Publicado 2023

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

por 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
Publicado 2018

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

por 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.
Publicado 2020