Maaike C. de Vries

Mitochondrial disease criteria

Éva Morava, Lambertus P. van den Heuvel, Frans A. Hol et al. · Neurology · 2006 · 277 citations

Life Sciences, Genetics, Pediatrics +17

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

Karlien L. M. Coene, Leo A. J. Kluijtmans, E. van der Heeft et al. · Journal of Inherited Metabolic Disease · 2018 · 204 citations · Full text

Life Sciences, Molecular Medicine, Mass Spectrometric Analysis +16

Monocarboxylate Transporter 1 Deficiency and Ketone Utilization

Peter M. van Hasselt, Sacha Ferdinandusse, Glen R. Monroe et al. · New England Journal of Medicine · 2014 · 120 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Deficiency of <scp>ECHS</scp>1 causes mitochondrial encephalopathy with cardiac involvement

Tobias B. Haack, Christopher B. Jackson, Kei Murayama et al. · Annals of Clinical and Translational Neurology · 2015 · 119 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Aminoacyl-tRNA synthetase deficiencies in search of common themes

Sabine A. Fuchs, Imre F. Schene, Gautam Kok et al. · Genetics in Medicine · 2018 · 115 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +14