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Journal of Inherited Metabolic Disease
|
April 12, 2011
Inborn errors of ketogenesis and ketone body utilization
Jörn Oliver Sass
Gene
|
July 4, 2012
Expression of aspartoacylase (ASPA) and Canavan disease
Anke Sommer, Jörn Oliver Sass
Molecular Genetics and Metabolism
|
January 9, 2026
Disease or non-disease - about the identification of metabolic conditions that require no treatment
Jörn Oliver Sass, Johannes Häberle
Biochimie
|
February 10, 2021
Frequent sequence variants of human glycine N-acyltransferase (GLYAT) and inborn errors of metabolism
Daniel Schulke, Jörn Oliver Sass
Medical Hypotheses
|
June 1, 2005
Glutaconyl-CoA is the main toxic agent in glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)
Willy Lehnert, Jörn Oliver Sass
Orphanet Journal of Rare Diseases
|
April 30, 2020
2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways
Sarah C Grünert, Jörn Oliver Sass
Orphanet Journal of Rare Diseases
|
February 16, 2020
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces
Sarah C Grünert, Jörn Oliver Sass
Brain & Development
|
January 20, 2004
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease
Jörn Oliver Sass, Rosemarie Forstner, Wolfgang Sperl
Orphanet Journal of Rare Diseases
|
January 29, 2026
Isobutyryl-coenzyme a dehydrogenase deficiency: disease, or non-disease?
María Daniela Santacruz Reyes, Jörn Oliver Sass
Molecular Genetics and Metabolism Reports
|
December 13, 2021
Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses
Déborah Mathis, Jörn Oliver Sass, Claudia Graubner, et al.
Page
of 10
Search research articles
Search
Showing results (1-10 of 93) with videos related to
Sort By:
Page
of 10
Journal of Inherited Metabolic Disease
|
April 12, 2011
Inborn errors of ketogenesis and ketone body utilization
Jörn Oliver Sass
Gene
|
July 4, 2012
Expression of aspartoacylase (ASPA) and Canavan disease
Anke Sommer, Jörn Oliver Sass
Molecular Genetics and Metabolism
|
January 9, 2026
Disease or non-disease - about the identification of metabolic conditions that require no treatment
Jörn Oliver Sass, Johannes Häberle
Biochimie
|
February 10, 2021
Frequent sequence variants of human glycine N-acyltransferase (GLYAT) and inborn errors of metabolism
Daniel Schulke, Jörn Oliver Sass
Medical Hypotheses
|
June 1, 2005
Glutaconyl-CoA is the main toxic agent in glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)
Willy Lehnert, Jörn Oliver Sass
Orphanet Journal of Rare Diseases
|
April 30, 2020
2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways
Sarah C Grünert, Jörn Oliver Sass
Orphanet Journal of Rare Diseases
|
February 16, 2020
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces
Sarah C Grünert, Jörn Oliver Sass
Brain & Development
|
January 20, 2004
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease
Jörn Oliver Sass, Rosemarie Forstner, Wolfgang Sperl
Orphanet Journal of Rare Diseases
|
January 29, 2026
Isobutyryl-coenzyme a dehydrogenase deficiency: disease, or non-disease?
María Daniela Santacruz Reyes, Jörn Oliver Sass
Molecular Genetics and Metabolism Reports
|
December 13, 2021
Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses
Déborah Mathis, Jörn Oliver Sass, Claudia Graubner, et al.
Page
of 10