C. Jakobs

Congenital Creatine Transporter Deficiency

Ton J. deGrauw, G. S. Salomons, Kim M. Cecil et al. · Neuropediatrics · 2002 · 108 citations

Life Sciences, Genetics, Molecular Genetics +9

D-2-Hydroxyglutaric aciduria: Biochemical marker or clinical disease entity?

Marjo S. van der Knaap, C. Jakobs, Georg F. Hoffmann et al. · Annals of Neurology · 1999 · 80 citations

Medicine, Neurology, Pediatrics +13

5-Methyltetrahydrofolic acid and folic acid measured in plasma with liquid chromatography tandem mass spectrometry: applications to folate absorption and metabolism

Rob Kok, Desirée E.C. Smith, J. Dainty et al. · Analytical Biochemistry · 2004 · 77 citations

Life Sciences, Biochemistry, Nutritional Sciences +16

Kinetic characterization of human hydroxyacid–oxoacid transhydrogenase: Relevance to<scp>D</scp>‐2‐hydroxyglutaric and γ‐hydroxybutyric acidurias

Eduard A. Struys, Nanda M. Verhoeven, H.J. ten Brink et al. · Journal of Inherited Metabolic Disease · 2005 · 73 citations · Full text

Life Sciences, Biochemistry, Enzymology +6

Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels

Levinus A. Bok, Eduard A. Struys, Michèl A.A.P. Willemsen et al. · Archives of Disease in Childhood · 2006 · 67 citations · Full text

Medicine, Neurology, Neuroscience +8