Sass, Jõrn Oliver

Top Publications

Top Publications Authored or Co-Authored by "Sass, Jõrn Oliver"

• 3-Methylglutaconic aciduria - Lessons from 50 genes and 977 patients

  Journal of Inherited Metabolic Disease, Volume 36, No. 6, Year 2013, Citations 77
• 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: Functional and molecular studies on a defect in isoleucine catabolism

  Molecular Genetics and Metabolism, Volume 93, No. 1, Year 2008, Citations 41
• An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism

  Journal of Investigative Dermatology, Volume 129, No. 7, Year 2009, Citations 27
• All-trans-retinoyl-β-glucuronide is a potent teratogen in the mouse because of extensive metabolism to all-trans-retinoic acid

  Teratology, Volume 54, No. 3, Year 1996, Citations 26
• Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency

  Biochimica et Biophysica Acta - Molecular Basis of Disease, Volume 1812, No. 5, Year 2011, Citations 11