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Journal of Inherited Metabolic Disease|December 21, 2014
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disordersWolfgang Sperl, Leanne Fleuren, Peter Freisinger, et al.Journal of Inherited Metabolic Disease|November 27, 2014
Complex lipid trafficking in Niemann-Pick disease type CMarie T VanierJournal of Inherited Metabolic Disease|November 30, 2014
Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjögren-Larsson syndromeAna R Malheiro, Tiago Ferreira da Silva, Pedro BritesJournal of Inherited Metabolic Disease|November 21, 2014
Principles and practice of lipidomicsFrédéric M Vaz, Mia Pras-Raves, Albert H Bootsma, et al.Journal of Inherited Metabolic Disease|November 15, 2014
Hearing loss in adult patients with Fabry disease treated with enzyme replacement therapyEefje B Suntjens, Bouwien E Smid, Marieke Biegstraaten, et al.Journal of Inherited Metabolic Disease|January 17, 2020
Nanoparticles containing β-cyclodextrin potentially useful for the treatment of Niemann-Pick CBruna Donida, Marco Raabe, Bárbara Tauffner, et al.Journal of Inherited Metabolic Disease|January 18, 2020
Oxygen and nitrite reduction by heme-deficient sulphite oxidase in a patient with mild sulphite oxidase deficiencyDaniel Bender, Alexander T Kaczmarek, Sabina Kuester, et al.Journal of Inherited Metabolic Disease|February 18, 2020
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendationsAlessandro Rossi, Irene J Hoogeveen, Vanessa B Bastek, et al.Journal of Inherited Metabolic Disease|February 5, 2020
Δ1 -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorderClara Marco-Marín, Juan M Escamilla-Honrubia, José L Llácer, et al.Journal of Inherited Metabolic Disease|February 8, 2020
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensusMaaike C De Vries, David A Brown, Mitchell E Allen, et al.Pageof 429