Research output per year
Research output per year
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ATAD1 encephalopathy and stiff baby syndrome: A recognizable clinical presentation
Wolf, N. I., Zschocke, J., Jakobs, C., Rating, D. & Hoffmann, G. F., 2018, In: Brain. 141, 6, p. e49Research output: Contribution to journal › Comment/Letter to the editor › Academic
7 Citations (Scopus) -
Severe lactic acidosis associated with a suspected succinic semialdehyde dehydrogenase (SSADH) deficiency in a young Chihuahua dog
Kelmer, E., Gibson, K. M., Jakobs, C., Struys, E., Shelton, G. D., Aroch, I. & O’Brien, D. P., 2018, In: Israel Journal of Veterinary Medicine. 73, 2, p. 43-48Research output: Contribution to journal › Article › Academic › peer-review
1 Citation (Scopus) -
Experimental evidence of oxidative stress in patients with L-2-hydroxyglutaric aciduria and that L-carnitine attenuates in vitro DNA damage caused by D-2-hydroxyglutaric and L-2-hydroxyglutaric acids
Rodrigues, D. G. B., de Moura Coelho, D., Sitta, Â., Jacques, C. E. D., Hauschild, T., Manfredini, V., Bakkali, A., Struys, E. A., Jakobs, C., Wajner, M. & Vargas, C. R., 1 Aug 2017, In: Toxicology in Vitro. 42, p. 47-53 7 p.Research output: Contribution to journal › Article › Academic › peer-review
20 Citations (Scopus) -
Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood
Lapalme-Remis, S., Lewis, E. C., De Meulemeester, C., Chakraborty, P., Gibson, K. M., Torres, C., Guberman, A., Salomons, G., Jakobs, C., Ali-Ridha, A., Parviz, M. & Pearl, P. L., 2015, In: Neurology. 85, 10, p. 861-865Research output: Contribution to journal › Article › Academic › peer-review
37 Citations (Scopus) -
Cerebral Organic Acidurias
Kolker, S., Struijs, E. A., van der Knaap, M. S. & Jakobs, C. A. J. M., 2014, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Berlin Heidelberg: Springer, p. 143-156Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic