Related Experiment Videos
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations
L IJlst1, W Oostheim, J P Ruiter
1University of Amsterdam, Department of Clinical Chemistry, The Netherlands.
Journal of Inherited Metabolic Disease
|July 1, 1997
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Processing of mutant N-acetyl-α-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature.
Molecular genetics and metabolism·2017
Heparan sulfate derived disaccharides in plasma and total urinary excretion of glycosaminoglycans correlate with disease severity in Sanfilippo disease.
Journal of inherited metabolic disease·2012
Clinical variability of isovaleric acidemia in a genetically homogeneous population.
Journal of inherited metabolic disease·2012
Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.
Journal of inherited metabolic disease·2026
Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.
Journal of inherited metabolic disease·2026
Congenital Disorders of Glycosylation (CDG): State of the Art in 2026.
Journal of inherited metabolic disease·2026
Treatment of Fatty Acid Oxidation Disorders Today: Emerging Personalized Treatment Strategies.
Journal of inherited metabolic disease·2026
International Guideline on the Diagnosis, Treatment, and Monitoring of Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD).
Journal of inherited metabolic disease·2026
The Association Between Alcohol Intake and Incident Major Adverse Liver Outcomes Remains Stable Despite Rising Metabolic Risk.
Liver international : official journal of the International Association for the Study of the Liver·2026
SERINC2: From membrane lipid synthesis to human disease.
Life sciences·2026
BTRC aggravates FFA-induced lipid accumulation in MASLD via G3BP1 degradation and subsequent SIRT6 mRNA destabilization.
Biochimica et biophysica acta. Gene regulatory mechanisms·2026
Bile Acids as Mitochondrial Toxins: Emerging Insights in Fontan and Heart Failure with Preserved Ejection Fraction.
Canadian journal of physiology and pharmacology·2026
Ferroptosis in metabolic dysfunction-associated steatotic liver disease.
Frontiers in immunology·2026