Kluijtmans, Leo AJ
Radboud University Medical Center
5 papers on CoChatORCID 0000-0002-1999-3378
Most cited papers
- Verified
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study
Suomalainen, A., Elo, J. M., Pietiläinen, K. H., Hakonen, A. H., Sevastianova, K., Korpela, M., Isohanni, P., Marjavaara, S. K., Tyni, T., Kiuru-Enari, S., et al. (2011) · The Lancet Neurology
Metabolism and Genetic DisordersMitochondrial Function and Pathology
Cited by 427
- Verified
Exome Sequencing and the Management of Neurometabolic Disorders
Tarailo-Graovac, M., Shyr, C., Ross, C. J., Horvath, G. A., Salvarinova, R., Ye, X. C., Zhang, L.-H., Bhavsar, A. P., Lee, J. J. Y., Drögemöller, B. I., et al. (2016) · New England Journal of Medicine
Metabolism and Genetic DisordersGenomics and Rare Diseases
Cited by 281
- Verified
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness
Carrozzo, R., Dionisi-Vici, C., Steuerwald, U., Lucioli, S., Deodato, F., Di Giandomenico, S., Bertini, E., Franke, B., Kluijtmans, L. A. J., Meschini, M. C., et al. (2007) · Brain
Metabolism and Genetic DisordersMitochondrial Function and Pathology
Cited by 208
- Verified
NANS-mediated synthesis of sialic acid is required for brain and skeletal development
van Karnebeek, C. D. M., Bonafé, L., Wen, X.-Y., Tarailo-Graovac, M., Balzano, S., Royer-Bertrand, B., Ashikov, A., Garavelli, L., Mammi, I., Turolla, L., et al. (2016) · Nature Genetics
Glycosylation and Glycoproteins ResearchLysosomal Storage Disorders Research
Cited by 164
- Verified
Microbial Metabolism Shifts Towards an Adverse Profile with Supplementary Iron in the TIM-2 In vitro Model of the Human Colon
Kortman, G. A. M., Dutilh, B. E., Maathuis, A. J. H., Engelke, U. F., Boekhorst, J., Keegan, K. P., Nielsen, F. G. G., Betley, J., Weir, J. C., Kingsbury, Z., et al. (2016) · Frontiers in Microbiology
Gut microbiota and healthInfant Nutrition and Health
Cited by 73
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