Jakobs, Cornelius A.J.M.

Top Publications

Top Publications Authored or Co-Authored by "Jakobs, Cornelius A.J.M."

• The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): Case reports of 23 new patients

  Pediatrics, Volume 99, No. 4, Year 1997, Citations 139
• Phenotype and genotype in 101 males with x-linked creatine transporter deficiency

  Journal of Medical Genetics, Volume 50, No. 7, Year 2013, Citations 121
• Determination of succinylacetone in dried blood spots and liquid urine as a dansylhydrazone by liquid chromatography tandem mass spectrometry

  Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences, Volume 831, No. 1-2, Year 2006, Citations 35
• Familial encephalopathy and l-2-hydroxyglutaric aciduria

  Journal of Inherited Metabolic Disease, Volume 16, No. 5, Year 1993, Citations 11