Jörn Oliver Sass

Professor of Bioanalytics and Biochemistry

Bonn-Rhein-Sieg University of Applied Sciences

Germany

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Jörn Oliver Sass is a Professor of Bioanalytics and Biochemistry at Hochschule Bonn-Rhein-Sieg University of Applied Sciences in Germany. His research primarily focuses on metabolic disorders, particularly related to mitochondrial functions and their implications in various genetic deficiencies. Recent publications include studies on HMGCL gene variants, aminoacylase 1 deficiency, and biomarkers for drug development in metabolic acidemias.

Articles (13)

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2025

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2023

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2023

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2022

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2022

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2022

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2022

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2022

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2021

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2021

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2021

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2021

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2021

Collaborators (4)

Ute Spiekerkoetter

University Medical Center Freiburg

GERMANY

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Michel Hochuli

University Hospital of Bern

SWITZERLAND

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David Sinasac

Associate Professor

University of Calgary

CANADA

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Patrick Forny

University of Zurich

SWITZERLAND

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Jörn Oliver Sass

Research Interests

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Articles (13)

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: case report of a child with rare HMGCL gene variants

Disturbance of mitochondrial functions caused by N-acetylglutamate and N-acetylmethionine in brain of adolescent rats: Potential relevance in aminoacylase 1 deficiency

N-Acetylglutamate and N-acetylmethionine compromise mitochondrial bioenergetics homeostasis and glutamate oxidation in brain of developing rats: Potential implications for the pathogenesis of ACY1 deficiency

3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC–MS/MS method

Biomarkers for drug development in propionic and methylmalonic acidemias

Correction to: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces (Orphanet Journal of Rare Diseases, (2020), 15, 1, (48), 10.1186/s13023-020-1319-7)

Impaired ketone body utilisation as a cause of life-threatening ketoacidosis

Screening for hypophosphatasia: Does biochemistry lead the way?

3-Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency—A novel disorder of valine metabolism

Defective lysosomal storage in Fabry disease modifies mitochondrial structure, metabolism and turnover in renal epithelial cells

Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses

Frequent sequence variants of human glycine N-acyltransferase (GLYAT) and inborn errors of metabolism

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Collaborators (4)

Ute Spiekerkoetter

Michel Hochuli

David Sinasac

Patrick Forny

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