Showing results (81-90 of 121) with videos related to
Sort By:
Pageof 13
Frontiers in Neurology|August 10, 2023
Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing)Elise A Ferreira, Mark J N Buijs, Robin Wijngaard, et al.Advances in Experimental Medicine and Biology|September 13, 2011
Glycosphingolipids and insulin resistanceJohannes M Aerts, Rolf G Boot, Marco van Eijk, et al.Metabolism: Clinical and Experimental|August 6, 2011
Treatment of genetically obese mice with the iminosugar N-(5-adamantane-1-yl-methoxy-pentyl)-deoxynojirimycin reduces body weight by decreasing food intake and increasing fat oxidationMirjam Langeveld, Sjoerd A A van den Berg, Nora Bijl, et al.Clinical Nutrition (Edinburgh, Scotland)|September 19, 2020
Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracerSuzan J G Knottnerus, Dewi van Harskamp, Henk Schierbeek, et al.Journal of Inherited Metabolic Disease|May 26, 2022
Very long-term outcomes in 23 patients with cblA type methylmalonic acidemiaCecilia Marelli, Alain Fouilhoux, Jean-Francois Benoist, et al.Cellular & Molecular Immunology|March 3, 2025
Cholesterol homeostasis and lipid raft dynamics at the basis of tumor-induced immune dysfunction in chronic lymphocytic leukemiaChaja F Jacobs, Fleur S Peters, Elena Camerini, et al.Journal of Inherited Metabolic Disease|January 25, 2018
The role of the clinician in the multi-omics era: are you ready?Clara D M van Karnebeek, Saskia B Wortmann, Maja Tarailo-Graovac, et al.Journal of Inherited Metabolic Disease|August 8, 2018
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressureEsmee Oussoren, Irene M J Mathijssen, Margreet Wagenmakers, et al.Hepatology Communications|January 8, 2025
Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individualsPramod K Mistry, David Cassiman, Simon A Jones, et al.Orphanet Journal of Rare Diseases|August 18, 2018
Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trialsMario Cortina-Borja, Danielle Te Vruchte, Eugen Mengel, et al.Pageof 13