Jorn O. Sass
Freiburg, BW 79106, Germany
Last Updated: 09/26/2026
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Found 8 publications
3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase.
Journal: Journal of inherited metabolic disease
Published: April 07, 2011
Selective screening for inborn errors of metabolism--assessment of metabolites in body fluids.
Journal: Clinical biochemistry
Published: March 01, 2011
Inborn errors of ketogenesis and ketone body utilization.
Journal: Journal of inherited metabolic disease
Published: February 16, 2011
D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK).
Journal: Human mutation
Published: August 29, 2010
Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia.
Journal: Brain & development
Published: May 01, 2009
L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene.
Journal: Journal of inherited metabolic disease
Published: December 22, 2007
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism.
Journal: Molecular genetics and metabolism
Published: August 29, 2007
Showing 1-8 of 8
Last Updated: 09/26/2026