Ruiter, Jos P.N.

Top Publications

Top Publications Authored or Co-Authored by "Ruiter, Jos P.N."

• Clinical variability of isovaleric acidemia in a genetically homogeneous population

  Journal of Inherited Metabolic Disease, Volume 35, No. 6, Year 2012, Citations 45
• Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

  American Journal of Human Genetics, Volume 105, No. 3, Year 2019, Citations 42
• Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency

  Journal of Inherited Metabolic Disease, Volume 25, No. 5, Year 2002, Citations 20
• A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue

  Molecular Genetics and Metabolism, Volume 119, No. 4, Year 2016, Citations 8
• Carnitine palmityl transferase I deficiency in a Saudi famil

  Saudi Medical Journal, Volume 22, No. 11, Year 2001, Citations 6