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European Journal of Human Genetics : EJHG|March 19, 2015
Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndromeLorenzo Ferri, Maria A Donati, Silvia Funghini, et al.Geroscience|November 27, 2024
Plasma triacylglycerol length and saturation level mark healthy aging groups in humansWeisha Li, Bauke V Schomakers, Michel van Weeghel, et al.Journal of Inherited Metabolic Disease|March 7, 2026
Safety and Effectiveness of Pharmacy Compounded Chenodeoxycholic Acid Capsules for Patients With Cerebrotendinous XanthomatosisNatalja Bouwhuis, Soumia Majait, Yasmin Polak, et al.Frontiers in Cell and Developmental Biology|September 9, 2020
Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal DisordersYorrick R J Jaspers, Sacha Ferdinandusse, Inge M E Dijkstra, et al.Pediatric Research|March 19, 2005
Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient miceUte Spiekerkoetter, Chonan Tokunaga, Udo Wendel, et al.FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|January 15, 2022
Time-restricted feeding during the inactive phase abolishes the daily rhythm in mitochondrial respiration in rat skeletal musclePaul de Goede, Rob C I Wüst, Bauke V Schomakers, et al.American Journal of Human Genetics|September 27, 2008
Mutations in LPIN1 cause recurrent acute myoglobinuria in childhoodAvraham Zeharia, Avraham Shaag, Riekelt H Houtkooper, et al.Nutrition & Diabetes|December 21, 2017
Ethnic differences in metabolite signatures and type 2 diabetes: a nested case-control analysis among people of South Asian, African and European originIrene G M van Valkengoed, Carmen Argmann, Karen Ghauharali-van der Vlugt, et al.Chemical Research in Toxicology|March 26, 2008
Radical acetylation of 2'-deoxyguanosine and L-histidine coupled to the reaction of diacetyl with peroxynitrite in aerated mediumJúlio Massari, Débora E Fujiy, Fernando Dutra, et al.American Journal of Medical Genetics. Part A|November 16, 2019
Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosisAnwar Baban, Rachele Adorisio, Bernadette Corica, et al.Pageof 55